Canonical Allele Identifier: CA349652086

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179497697C>G (hg19) ; chr2:g.178632970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632970C>G , CM000664.2:g.178632970C>G	GRCh38
NC_000002.11:g.179497697C>G , CM000664.1:g.179497697C>G	GRCh37
NC_000002.10:g.179205942C>G	NCBI36
NG_011618.3:g.202833G>C , LRG_391:g.202833G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.35457G>C	ENSP00000343764.6:p.Glu11819Asp
ENST00000342175.11:c.16542G>C	ENSP00000340554.6:p.Glu5514Asp
ENST00000359218.10:c.16341G>C	ENSP00000352154.5:p.Glu5447Asp
ENST00000342175.10:c.16542G>C	ENSP00000340554.6:p.Glu5514Asp
ENST00000342992.10:c.35457G>C	ENSP00000343764.6:p.Glu11819Asp
ENST00000359218.9:c.16341G>C	ENSP00000352154.5:p.Glu5447Asp
ENST00000460472.6:c.15966G>C	ENSP00000434586.1:p.Glu5322Asp
ENST00000589042.5:c.43161G>C MANE Select	ENSP00000467141.1:p.Glu14387Asp
ENST00000591111.5:c.38238G>C	ENSP00000465570.1:p.Glu12746Asp
ENST00000615779.4:c.38238G>C	ENSP00000483597.1:p.Glu12746Asp
NM_001256850.1:c.38238G>C	NP_001243779.1:p.Glu12746Asp
NM_001267550.2:c.43161G>C MANE Select	NP_001254479.2:p.Glu14387Asp
NM_003319.4:c.15966G>C	NP_003310.4:p.Glu5322Asp
NM_133378.4:c.35457G>C	NP_596869.4:p.Glu11819Asp
NM_133432.3:c.16341G>C	NP_597676.3:p.Glu5447Asp
NM_133437.4:c.16542G>C	NP_597681.4:p.Glu5514Asp
XM_011511729.1:c.42258G>C	XP_011510031.1:p.Glu14086Asp
XM_011511730.1:c.16152G>C	XP_011510032.1:p.Glu5384Asp
XM_011511731.1:c.16011G>C	XP_011510033.1:p.Glu5337Asp
XM_017004819.1:c.42054G>C	XP_016860308.1:p.Glu14018Asp
XM_017004820.1:c.37452G>C	XP_016860309.1:p.Glu12484Asp
XM_017004821.1:c.37449G>C	XP_016860310.1:p.Glu12483Asp
XM_017004822.1:c.34491G>C	XP_016860311.1:p.Glu11497Asp
XM_017004823.1:c.16107G>C	XP_016860312.1:p.Glu5369Asp
XM_024453094.1:c.37602G>C	XP_024308862.1:p.Glu12534Asp
XM_024453095.1:c.37599G>C	XP_024308863.1:p.Glu12533Asp
XM_024453096.1:c.37032G>C	XP_024308864.1:p.Glu12344Asp
XM_024453097.1:c.34374G>C	XP_024308865.1:p.Glu11458Asp
XM_024453098.1:c.34293G>C	XP_024308866.1:p.Glu11431Asp
XM_024453099.1:c.16056G>C	XP_024308867.1:p.Glu5352Asp
XM_024453100.1:c.5910G>C	XP_024308868.1:p.Glu1970Asp