ClinVar

NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178718400 (on Assembly GRCh38)
• Chr2: 179583127 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)

HGVS:

• NC_000002.12:g.178718400C>T
• NG_011618.3:g.117403G>A
• NM_001256850.1:c.23755G>A
• NM_001267550.2:c.24706G>AMANE SELECT
• NM_003319.4:c.13282+19682G>A
• NM_133378.4:c.20974G>A
• NM_133432.3:c.13657+19682G>A
• NM_133437.4:c.13858+19682G>A
• NP_001243779.1:p.Glu7919Lys
• NP_001254479.2:p.Glu8236Lys
• NP_596869.4:p.Glu6992Lys
• LRG_391t1:c.24706G>A
• LRG_391:g.117403G>A
• NC_000002.11:g.179583127C>T
• NM_001267550.1:c.24706G>A
• c.20974G>A

This HGVS expression did not pass validation

Protein change:

E6992K

Links:

dbSNP: rs377762626

Molecular consequence:

• NM_003319.4:c.13282+19682G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+19682G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+19682G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.23755G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.24706G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.20974G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1