ClinVar

NM_001267550.2(TTN):c.26762-39TTTGT[11]

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178713381 - 178713382 (on Assembly GRCh38)
• Chr2: 179578108 - 179578109 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.26762-39TTTGT[11]

HGVS:

• NC_000002.12:g.178713383CAAAA[11]
• NG_011618.3:g.122392TTTGT[11]
• NM_001256850.1:c.25811-39TTTGT[11]
• NM_001267550.2:c.26762-34_26762-10dup
• NM_001267550.2:c.26762-39TTTGT[11]MANE SELECT
• NM_003319.4:c.13282+24671TTTGT[11]
• NM_133378.4:c.23030-39TTTGT[11]
• NM_133432.3:c.13657+24671TTTGT[11]
• NM_133437.4:c.13858+24671TTTGT[11]
• LRG_391:g.122392TTTGT[11]
• NC_000002.11:g.179578108_179578109insACAAAACAAAACAAAACAAAACAAA
• NC_000002.11:g.179578110CAAAA[11]
• NM_001267550.2:c.26762-34_26762-10dupMANE SELECT
• NM_001267550.2:c.26762-34_26762-10dup25MANE SELECT
• NM_001267550.2:c.26762-34_26762-10dupTTTGTTTTGTTTTGTTTTGTTTTGTMANE SELECT
• NM_133378.4:c.23030-34_23030-10dup25
• NM_133378.4:c.23030-34_23030-10dupTTTGTTTTGTTTTGTTTTGTTTTGT

This HGVS expression did not pass validation

Links:

dbSNP: rs71393436

NCBI 1000 Genomes Browser:

rs71393436

Molecular consequence:

• NM_001256850.1:c.25811-39TTTGT[11] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001267550.2:c.26762-39TTTGT[11] - intron variant - [Sequence Ontology: SO:0001627]
• NM_003319.4:c.13282+24671TTTGT[11] - intron variant - [Sequence Ontology: SO:0001627]
• NM_133378.4:c.23030-39TTTGT[11] - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+24671TTTGT[11] - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+24671TTTGT[11] - intron variant - [Sequence Ontology: SO:0001627]