ClinVar

NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178565471 (on Assembly GRCh38)
• Chr2: 179430198 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)

Other names:

p.N24319N:AAC>AAT

HGVS:

• NC_000002.12:g.178565471G>A
• NG_011618.3:g.270332C>T
• NG_051363.1:g.47645G>A
• NM_001256850.1:c.75738C>T
• NM_001267550.2:c.80661C>TMANE SELECT
• NM_003319.4:c.53466C>T
• NM_133378.4:c.72957C>T
• NM_133432.3:c.53841C>T
• NM_133437.4:c.54042C>T
• NP_001243779.1:p.Asn25246=
• NP_001254479.2:p.Asn26887=
• NP_003310.4:p.Asn17822=
• NP_596869.4:p.Asn24319=
• NP_597676.3:p.Asn17947=
• NP_597681.4:p.Asn18014=
• LRG_391:g.270332C>T
• NC_000002.11:g.179430198G>A
• c.72957C>T
• p.Asn24319Asn

This HGVS expression did not pass validation

Links:

dbSNP: rs201069672

NCBI 1000 Genomes Browser:

rs201069672

Molecular consequence:

• NM_001256850.1:c.75738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.80661C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.53466C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.72957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.53841C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.54042C>T - synonymous variant - [Sequence Ontology: SO:0001819]