Canonical Allele Identifier: CA349635716

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179486371T>A (hg19) ; chr2:g.178621644T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621644T>A , CM000664.2:g.178621644T>A	GRCh38
NC_000002.11:g.179486371T>A , CM000664.1:g.179486371T>A	GRCh37
NC_000002.10:g.179194616T>A	NCBI36
NG_011618.3:g.214159A>T , LRG_391:g.214159A>T
NG_051363.1:g.103818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.37476A>T	ENSP00000343764.6:p.Glu12492Asp
ENST00000342175.11:c.18561A>T	ENSP00000340554.6:p.Glu6187Asp
ENST00000359218.10:c.18360A>T	ENSP00000352154.5:p.Glu6120Asp
ENST00000342175.10:c.18561A>T	ENSP00000340554.6:p.Glu6187Asp
ENST00000342992.10:c.37476A>T	ENSP00000343764.6:p.Glu12492Asp
ENST00000359218.9:c.18360A>T	ENSP00000352154.5:p.Glu6120Asp
ENST00000460472.6:c.17985A>T	ENSP00000434586.1:p.Glu5995Asp
ENST00000589042.5:c.45180A>T MANE Select	ENSP00000467141.1:p.Glu15060Asp
ENST00000591111.5:c.40257A>T	ENSP00000465570.1:p.Glu13419Asp
ENST00000615779.4:c.40257A>T	ENSP00000483597.1:p.Glu13419Asp
NM_001256850.1:c.40257A>T	NP_001243779.1:p.Glu13419Asp
NM_001267550.2:c.45180A>T MANE Select	NP_001254479.2:p.Glu15060Asp
NM_003319.4:c.17985A>T	NP_003310.4:p.Glu5995Asp
NM_133378.4:c.37476A>T	NP_596869.4:p.Glu12492Asp
NM_133432.3:c.18360A>T	NP_597676.3:p.Glu6120Asp
NM_133437.4:c.18561A>T	NP_597681.4:p.Glu6187Asp
XM_011511729.1:c.44277A>T	XP_011510031.1:p.Glu14759Asp
XM_011511730.1:c.18171A>T	XP_011510032.1:p.Glu6057Asp
XM_011511731.1:c.18030A>T	XP_011510033.1:p.Glu6010Asp
XM_017004819.1:c.44073A>T	XP_016860308.1:p.Glu14691Asp
XM_017004820.1:c.39471A>T	XP_016860309.1:p.Glu13157Asp
XM_017004821.1:c.39468A>T	XP_016860310.1:p.Glu13156Asp
XM_017004822.1:c.36510A>T	XP_016860311.1:p.Glu12170Asp
XM_017004823.1:c.18126A>T	XP_016860312.1:p.Glu6042Asp
XM_024453094.1:c.39621A>T	XP_024308862.1:p.Glu13207Asp
XM_024453095.1:c.39618A>T	XP_024308863.1:p.Glu13206Asp
XM_024453096.1:c.39051A>T	XP_024308864.1:p.Glu13017Asp
XM_024453097.1:c.36393A>T	XP_024308865.1:p.Glu12131Asp
XM_024453098.1:c.36312A>T	XP_024308866.1:p.Glu12104Asp
XM_024453099.1:c.18075A>T	XP_024308867.1:p.Glu6025Asp
XM_024453100.1:c.7929A>T	XP_024308868.1:p.Glu2643Asp