Canonical Allele Identifier: CA349652092

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179497699C>A (hg19) ; chr2:g.178632972C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632972C>A , CM000664.2:g.178632972C>A	GRCh38
NC_000002.11:g.179497699C>A , CM000664.1:g.179497699C>A	GRCh37
NC_000002.10:g.179205944C>A	NCBI36
NG_011618.3:g.202831G>T , LRG_391:g.202831G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.35455G>T	ENSP00000343764.6:p.Glu11819Ter
ENST00000342175.11:c.16540G>T	ENSP00000340554.6:p.Glu5514Ter
ENST00000359218.10:c.16339G>T	ENSP00000352154.5:p.Glu5447Ter
ENST00000342175.10:c.16540G>T	ENSP00000340554.6:p.Glu5514Ter
ENST00000342992.10:c.35455G>T	ENSP00000343764.6:p.Glu11819Ter
ENST00000359218.9:c.16339G>T	ENSP00000352154.5:p.Glu5447Ter
ENST00000460472.6:c.15964G>T	ENSP00000434586.1:p.Glu5322Ter
ENST00000589042.5:c.43159G>T MANE Select	ENSP00000467141.1:p.Glu14387Ter
ENST00000591111.5:c.38236G>T	ENSP00000465570.1:p.Glu12746Ter
ENST00000615779.4:c.38236G>T	ENSP00000483597.1:p.Glu12746Ter
NM_001256850.1:c.38236G>T	NP_001243779.1:p.Glu12746Ter
NM_001267550.2:c.43159G>T MANE Select	NP_001254479.2:p.Glu14387Ter
NM_003319.4:c.15964G>T	NP_003310.4:p.Glu5322Ter
NM_133378.4:c.35455G>T	NP_596869.4:p.Glu11819Ter
NM_133432.3:c.16339G>T	NP_597676.3:p.Glu5447Ter
NM_133437.4:c.16540G>T	NP_597681.4:p.Glu5514Ter
XM_011511729.1:c.42256G>T	XP_011510031.1:p.Glu14086Ter
XM_011511730.1:c.16150G>T	XP_011510032.1:p.Glu5384Ter
XM_011511731.1:c.16009G>T	XP_011510033.1:p.Glu5337Ter
XM_017004819.1:c.42052G>T	XP_016860308.1:p.Glu14018Ter
XM_017004820.1:c.37450G>T	XP_016860309.1:p.Glu12484Ter
XM_017004821.1:c.37447G>T	XP_016860310.1:p.Glu12483Ter
XM_017004822.1:c.34489G>T	XP_016860311.1:p.Glu11497Ter
XM_017004823.1:c.16105G>T	XP_016860312.1:p.Glu5369Ter
XM_024453094.1:c.37600G>T	XP_024308862.1:p.Glu12534Ter
XM_024453095.1:c.37597G>T	XP_024308863.1:p.Glu12533Ter
XM_024453096.1:c.37030G>T	XP_024308864.1:p.Glu12344Ter
XM_024453097.1:c.34372G>T	XP_024308865.1:p.Glu11458Ter
XM_024453098.1:c.34291G>T	XP_024308866.1:p.Glu11431Ter
XM_024453099.1:c.16054G>T	XP_024308867.1:p.Glu5352Ter
XM_024453100.1:c.5908G>T	XP_024308868.1:p.Glu1970Ter