Canonical Allele Identifier: CA349635724

Gene: TTN

Linked Data

• gnomAD v4: 2-178621646-C-A
• MyVariant Identifiers: chr2:g.179486373C>A (hg19) ; chr2:g.178621646C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621646C>A , CM000664.2:g.178621646C>A	GRCh38
NC_000002.11:g.179486373C>A , CM000664.1:g.179486373C>A	GRCh37
NC_000002.10:g.179194618C>A	NCBI36
NG_011618.3:g.214157G>T , LRG_391:g.214157G>T
NG_051363.1:g.103820C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37474G>T	ENSP00000343764.6:p.Glu12492Ter
ENST00000342175.11:c.18559G>T	ENSP00000340554.6:p.Glu6187Ter
ENST00000359218.10:c.18358G>T	ENSP00000352154.5:p.Glu6120Ter
ENST00000342175.10:c.18559G>T	ENSP00000340554.6:p.Glu6187Ter
ENST00000342992.10:c.37474G>T	ENSP00000343764.6:p.Glu12492Ter
ENST00000359218.9:c.18358G>T	ENSP00000352154.5:p.Glu6120Ter
ENST00000460472.6:c.17983G>T	ENSP00000434586.1:p.Glu5995Ter
ENST00000589042.5:c.45178G>T MANE Select	ENSP00000467141.1:p.Glu15060Ter
ENST00000591111.5:c.40255G>T	ENSP00000465570.1:p.Glu13419Ter
ENST00000615779.4:c.40255G>T	ENSP00000483597.1:p.Glu13419Ter
NM_001256850.1:c.40255G>T	NP_001243779.1:p.Glu13419Ter
NM_001267550.2:c.45178G>T MANE Select	NP_001254479.2:p.Glu15060Ter
NM_003319.4:c.17983G>T	NP_003310.4:p.Glu5995Ter
NM_133378.4:c.37474G>T	NP_596869.4:p.Glu12492Ter
NM_133432.3:c.18358G>T	NP_597676.3:p.Glu6120Ter
NM_133437.4:c.18559G>T	NP_597681.4:p.Glu6187Ter
XM_011511729.1:c.44275G>T	XP_011510031.1:p.Glu14759Ter
XM_011511730.1:c.18169G>T	XP_011510032.1:p.Glu6057Ter
XM_011511731.1:c.18028G>T	XP_011510033.1:p.Glu6010Ter
XM_017004819.1:c.44071G>T	XP_016860308.1:p.Glu14691Ter
XM_017004820.1:c.39469G>T	XP_016860309.1:p.Glu13157Ter
XM_017004821.1:c.39466G>T	XP_016860310.1:p.Glu13156Ter
XM_017004822.1:c.36508G>T	XP_016860311.1:p.Glu12170Ter
XM_017004823.1:c.18124G>T	XP_016860312.1:p.Glu6042Ter
XM_024453094.1:c.39619G>T	XP_024308862.1:p.Glu13207Ter
XM_024453095.1:c.39616G>T	XP_024308863.1:p.Glu13206Ter
XM_024453096.1:c.39049G>T	XP_024308864.1:p.Glu13017Ter
XM_024453097.1:c.36391G>T	XP_024308865.1:p.Glu12131Ter
XM_024453098.1:c.36310G>T	XP_024308866.1:p.Glu12104Ter
XM_024453099.1:c.18073G>T	XP_024308867.1:p.Glu6025Ter
XM_024453100.1:c.7927G>T	XP_024308868.1:p.Glu2643Ter