Canonical Allele Identifier: CA309488

Gene: TTN

Linked Data

• ClinVar Variation Id: 202517
• ClinVar RCV Id: RCV000184386 ; RCV001175440 ; RCV001852396
• dbSNP Id: rs794729380
• COSMIC: COSM331975 ; COSM331976 ; COSM331977
• MyVariant Identifiers: chr2:g.179500258G>T (hg19) ; chr2:g.178635531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178635531G>T , CM000664.2:g.178635531G>T	GRCh38
NC_000002.11:g.179500258G>T , CM000664.1:g.179500258G>T	GRCh37
NC_000002.10:g.179208503G>T	NCBI36
NG_011618.3:g.200272C>A , LRG_391:g.200272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.34089C>A	ENSP00000343764.6:p.Tyr11363Ter
ENST00000342175.11:c.15174C>A	ENSP00000340554.6:p.Tyr5058Ter
ENST00000359218.10:c.14973C>A	ENSP00000352154.5:p.Tyr4991Ter
ENST00000342175.10:c.15174C>A	ENSP00000340554.6:p.Tyr5058Ter
ENST00000342992.10:c.34089C>A	ENSP00000343764.6:p.Tyr11363Ter
ENST00000359218.9:c.14973C>A	ENSP00000352154.5:p.Tyr4991Ter
ENST00000460472.6:c.14598C>A	ENSP00000434586.1:p.Tyr4866Ter
ENST00000589042.5:c.41793C>A MANE Select	ENSP00000467141.1:p.Tyr13931Ter
ENST00000591111.5:c.36870C>A	ENSP00000465570.1:p.Tyr12290Ter
ENST00000615779.4:c.36870C>A	ENSP00000483597.1:p.Tyr12290Ter
NM_001256850.1:c.36870C>A	NP_001243779.1:p.Tyr12290Ter
NM_001267550.2:c.41793C>A MANE Select	NP_001254479.2:p.Tyr13931Ter
NM_003319.4:c.14598C>A	NP_003310.4:p.Tyr4866Ter
NM_133378.4:c.34089C>A	NP_596869.4:p.Tyr11363Ter
NM_133432.3:c.14973C>A	NP_597676.3:p.Tyr4991Ter
NM_133437.4:c.15174C>A	NP_597681.4:p.Tyr5058Ter
XM_011511729.1:c.40890C>A	XP_011510031.1:p.Tyr13630Ter
XM_011511730.1:c.14784C>A	XP_011510032.1:p.Tyr4928Ter
XM_011511731.1:c.14643C>A	XP_011510033.1:p.Tyr4881Ter
XM_017004819.1:c.40686C>A	XP_016860308.1:p.Tyr13562Ter
XM_017004820.1:c.36084C>A	XP_016860309.1:p.Tyr12028Ter
XM_017004821.1:c.36081C>A	XP_016860310.1:p.Tyr12027Ter
XM_017004822.1:c.33123C>A	XP_016860311.1:p.Tyr11041Ter
XM_017004823.1:c.14739C>A	XP_016860312.1:p.Tyr4913Ter
XM_024453094.1:c.36234C>A	XP_024308862.1:p.Tyr12078Ter
XM_024453095.1:c.36231C>A	XP_024308863.1:p.Tyr12077Ter
XM_024453096.1:c.35664C>A	XP_024308864.1:p.Tyr11888Ter
XM_024453097.1:c.33006C>A	XP_024308865.1:p.Tyr11002Ter
XM_024453098.1:c.32925C>A	XP_024308866.1:p.Tyr10975Ter
XM_024453099.1:c.14688C>A	XP_024308867.1:p.Tyr4896Ter
XM_024453100.1:c.4542C>A	XP_024308868.1:p.Tyr1514Ter