Canonical Allele Identifier: CA349615673

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179605654T>A (hg19) ; chr2:g.178740927T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740927T>A , CM000664.2:g.178740927T>A	GRCh38
NC_000002.11:g.179605654T>A , CM000664.1:g.179605654T>A	GRCh37
NC_000002.10:g.179313899T>A	NCBI36
NG_011618.3:g.94876A>T , LRG_391:g.94876A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.10361-2567A>T	ENSP00000343764.6:n.10361-2567A>T
ENST00000342175.11:c.11793A>T	ENSP00000340554.6:p.Glu3931Asp
ENST00000359218.10:c.11592A>T	ENSP00000352154.5:p.Glu3864Asp
ENST00000342175.10:c.11793A>T	ENSP00000340554.6:p.Glu3931Asp
ENST00000342992.10:c.10361-2567A>T	ENSP00000343764.6:n.10361-2567A>T
ENST00000359218.9:c.11592A>T	ENSP00000352154.5:p.Glu3864Asp
ENST00000460472.6:c.11217A>T	ENSP00000434586.1:p.Glu3739Asp
ENST00000589042.5:c.12306A>T MANE Select	ENSP00000467141.1:p.Glu4102Asp
ENST00000591111.5:c.11355A>T	ENSP00000465570.1:p.Glu3785Asp
ENST00000615779.4:c.11355A>T	ENSP00000483597.1:p.Glu3785Asp
NM_001256850.1:c.11355A>T	NP_001243779.1:p.Glu3785Asp
NM_001267550.2:c.12306A>T MANE Select	NP_001254479.2:p.Glu4102Asp
NM_003319.4:c.11217A>T	NP_003310.4:p.Glu3739Asp
NM_133378.4:c.10361-2567A>T	NP_596869.4:n.10361-2567A>T
NM_133432.3:c.11592A>T	NP_597676.3:p.Glu3864Asp
NM_133437.4:c.11793A>T	NP_597681.4:p.Glu3931Asp
XM_011511729.1:c.11403A>T	XP_011510031.1:p.Glu3801Asp
XM_011511730.1:c.11403A>T	XP_011510032.1:p.Glu3801Asp
XM_011511731.1:c.11262A>T	XP_011510033.1:p.Glu3754Asp
XM_017004819.1:c.11358A>T	XP_016860308.1:p.Glu3786Asp
XM_017004820.1:c.10364-2567A>T	XP_016860309.1:n.10364-2567A>T
XM_017004821.1:c.10361-2567A>T	XP_016860310.1:n.10361-2567A>T
XM_017004822.1:c.11358A>T	XP_016860311.1:p.Glu3786Asp
XM_017004823.1:c.11358A>T	XP_016860312.1:p.Glu3786Asp
XM_024453094.1:c.11358A>T	XP_024308862.1:p.Glu3786Asp
XM_024453095.1:c.11358A>T	XP_024308863.1:p.Glu3786Asp
XM_024453096.1:c.11358A>T	XP_024308864.1:p.Glu3786Asp
XM_024453097.1:c.11358A>T	XP_024308865.1:p.Glu3786Asp
XM_024453098.1:c.11358A>T	XP_024308866.1:p.Glu3786Asp
XM_024453099.1:c.11358A>T	XP_024308867.1:p.Glu3786Asp