Canonical Allele Identifier: CA349640314

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179489235A>T (hg19) ; chr2:g.178624508A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624508A>T , CM000664.2:g.178624508A>T	GRCh38
NC_000002.11:g.179489235A>T , CM000664.1:g.179489235A>T	GRCh37
NC_000002.10:g.179197480A>T	NCBI36
NG_011618.3:g.211295T>A , LRG_391:g.211295T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37068T>A	ENSP00000343764.6:p.Cys12356Ter
ENST00000342175.11:c.18153T>A	ENSP00000340554.6:p.Cys6051Ter
ENST00000359218.10:c.17952T>A	ENSP00000352154.5:p.Cys5984Ter
ENST00000342175.10:c.18153T>A	ENSP00000340554.6:p.Cys6051Ter
ENST00000342992.10:c.37068T>A	ENSP00000343764.6:p.Cys12356Ter
ENST00000359218.9:c.17952T>A	ENSP00000352154.5:p.Cys5984Ter
ENST00000460472.6:c.17577T>A	ENSP00000434586.1:p.Cys5859Ter
ENST00000589042.5:c.44772T>A MANE Select	ENSP00000467141.1:p.Cys14924Ter
ENST00000591111.5:c.39849T>A	ENSP00000465570.1:p.Cys13283Ter
ENST00000615779.4:c.39849T>A	ENSP00000483597.1:p.Cys13283Ter
NM_001256850.1:c.39849T>A	NP_001243779.1:p.Cys13283Ter
NM_001267550.2:c.44772T>A MANE Select	NP_001254479.2:p.Cys14924Ter
NM_003319.4:c.17577T>A	NP_003310.4:p.Cys5859Ter
NM_133378.4:c.37068T>A	NP_596869.4:p.Cys12356Ter
NM_133432.3:c.17952T>A	NP_597676.3:p.Cys5984Ter
NM_133437.4:c.18153T>A	NP_597681.4:p.Cys6051Ter
XM_011511729.1:c.43869T>A	XP_011510031.1:p.Cys14623Ter
XM_011511730.1:c.17763T>A	XP_011510032.1:p.Cys5921Ter
XM_011511731.1:c.17622T>A	XP_011510033.1:p.Cys5874Ter
XM_017004819.1:c.43665T>A	XP_016860308.1:p.Cys14555Ter
XM_017004820.1:c.39063T>A	XP_016860309.1:p.Cys13021Ter
XM_017004821.1:c.39060T>A	XP_016860310.1:p.Cys13020Ter
XM_017004822.1:c.36102T>A	XP_016860311.1:p.Cys12034Ter
XM_017004823.1:c.17718T>A	XP_016860312.1:p.Cys5906Ter
XM_024453094.1:c.39213T>A	XP_024308862.1:p.Cys13071Ter
XM_024453095.1:c.39210T>A	XP_024308863.1:p.Cys13070Ter
XM_024453096.1:c.38643T>A	XP_024308864.1:p.Cys12881Ter
XM_024453097.1:c.35985T>A	XP_024308865.1:p.Cys11995Ter
XM_024453098.1:c.35904T>A	XP_024308866.1:p.Cys11968Ter
XM_024453099.1:c.17667T>A	XP_024308867.1:p.Cys5889Ter
XM_024453100.1:c.7521T>A	XP_024308868.1:p.Cys2507Ter