Canonical Allele Identifier: CA1995931

Gene: TTN

Linked Data

• dbSNP Id: rs749959242
• ExAC: 2:179497698 T / A
• gnomAD v2: 2-179497698-T-A
• gnomAD v4: 2-178632971-T-A
• MyVariant Identifiers: chr2:g.179497698T>A (hg19) ; chr2:g.178632971T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632971T>A , CM000664.2:g.178632971T>A	GRCh38
NC_000002.11:g.179497698T>A , CM000664.1:g.179497698T>A	GRCh37
NC_000002.10:g.179205943T>A	NCBI36
NG_011618.3:g.202832A>T , LRG_391:g.202832A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.35456A>T	ENSP00000343764.6:p.Glu11819Val
ENST00000342175.11:c.16541A>T	ENSP00000340554.6:p.Glu5514Val
ENST00000359218.10:c.16340A>T	ENSP00000352154.5:p.Glu5447Val
ENST00000342175.10:c.16541A>T	ENSP00000340554.6:p.Glu5514Val
ENST00000342992.10:c.35456A>T	ENSP00000343764.6:p.Glu11819Val
ENST00000359218.9:c.16340A>T	ENSP00000352154.5:p.Glu5447Val
ENST00000460472.6:c.15965A>T	ENSP00000434586.1:p.Glu5322Val
ENST00000589042.5:c.43160A>T MANE Select	ENSP00000467141.1:p.Glu14387Val
ENST00000591111.5:c.38237A>T	ENSP00000465570.1:p.Glu12746Val
ENST00000615779.4:c.38237A>T	ENSP00000483597.1:p.Glu12746Val
NM_001256850.1:c.38237A>T	NP_001243779.1:p.Glu12746Val
NM_001267550.2:c.43160A>T MANE Select	NP_001254479.2:p.Glu14387Val
NM_003319.4:c.15965A>T	NP_003310.4:p.Glu5322Val
NM_133378.4:c.35456A>T	NP_596869.4:p.Glu11819Val
NM_133432.3:c.16340A>T	NP_597676.3:p.Glu5447Val
NM_133437.4:c.16541A>T	NP_597681.4:p.Glu5514Val
XM_011511729.1:c.42257A>T	XP_011510031.1:p.Glu14086Val
XM_011511730.1:c.16151A>T	XP_011510032.1:p.Glu5384Val
XM_011511731.1:c.16010A>T	XP_011510033.1:p.Glu5337Val
XM_017004819.1:c.42053A>T	XP_016860308.1:p.Glu14018Val
XM_017004820.1:c.37451A>T	XP_016860309.1:p.Glu12484Val
XM_017004821.1:c.37448A>T	XP_016860310.1:p.Glu12483Val
XM_017004822.1:c.34490A>T	XP_016860311.1:p.Glu11497Val
XM_017004823.1:c.16106A>T	XP_016860312.1:p.Glu5369Val
XM_024453094.1:c.37601A>T	XP_024308862.1:p.Glu12534Val
XM_024453095.1:c.37598A>T	XP_024308863.1:p.Glu12533Val
XM_024453096.1:c.37031A>T	XP_024308864.1:p.Glu12344Val
XM_024453097.1:c.34373A>T	XP_024308865.1:p.Glu11458Val
XM_024453098.1:c.34292A>T	XP_024308866.1:p.Glu11431Val
XM_024453099.1:c.16055A>T	XP_024308867.1:p.Glu5352Val
XM_024453100.1:c.5909A>T	XP_024308868.1:p.Glu1970Val