Canonical Allele Identifier: CA349636132

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179486468T>A (hg19) ; chr2:g.178621741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621741T>A , CM000664.2:g.178621741T>A	GRCh38
NC_000002.11:g.179486468T>A , CM000664.1:g.179486468T>A	GRCh37
NC_000002.10:g.179194713T>A	NCBI36
NG_011618.3:g.214062A>T , LRG_391:g.214062A>T
NG_051363.1:g.103915T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.37379A>T	ENSP00000343764.6:p.Glu12460Val
ENST00000342175.11:c.18464A>T	ENSP00000340554.6:p.Glu6155Val
ENST00000359218.10:c.18263A>T	ENSP00000352154.5:p.Glu6088Val
ENST00000342175.10:c.18464A>T	ENSP00000340554.6:p.Glu6155Val
ENST00000342992.10:c.37379A>T	ENSP00000343764.6:p.Glu12460Val
ENST00000359218.9:c.18263A>T	ENSP00000352154.5:p.Glu6088Val
ENST00000460472.6:c.17888A>T	ENSP00000434586.1:p.Glu5963Val
ENST00000589042.5:c.45083A>T MANE Select	ENSP00000467141.1:p.Glu15028Val
ENST00000591111.5:c.40160A>T	ENSP00000465570.1:p.Glu13387Val
ENST00000615779.4:c.40160A>T	ENSP00000483597.1:p.Glu13387Val
NM_001256850.1:c.40160A>T	NP_001243779.1:p.Glu13387Val
NM_001267550.2:c.45083A>T MANE Select	NP_001254479.2:p.Glu15028Val
NM_003319.4:c.17888A>T	NP_003310.4:p.Glu5963Val
NM_133378.4:c.37379A>T	NP_596869.4:p.Glu12460Val
NM_133432.3:c.18263A>T	NP_597676.3:p.Glu6088Val
NM_133437.4:c.18464A>T	NP_597681.4:p.Glu6155Val
XM_011511729.1:c.44180A>T	XP_011510031.1:p.Glu14727Val
XM_011511730.1:c.18074A>T	XP_011510032.1:p.Glu6025Val
XM_011511731.1:c.17933A>T	XP_011510033.1:p.Glu5978Val
XM_017004819.1:c.43976A>T	XP_016860308.1:p.Glu14659Val
XM_017004820.1:c.39374A>T	XP_016860309.1:p.Glu13125Val
XM_017004821.1:c.39371A>T	XP_016860310.1:p.Glu13124Val
XM_017004822.1:c.36413A>T	XP_016860311.1:p.Glu12138Val
XM_017004823.1:c.18029A>T	XP_016860312.1:p.Glu6010Val
XM_024453094.1:c.39524A>T	XP_024308862.1:p.Glu13175Val
XM_024453095.1:c.39521A>T	XP_024308863.1:p.Glu13174Val
XM_024453096.1:c.38954A>T	XP_024308864.1:p.Glu12985Val
XM_024453097.1:c.36296A>T	XP_024308865.1:p.Glu12099Val
XM_024453098.1:c.36215A>T	XP_024308866.1:p.Glu12072Val
XM_024453099.1:c.17978A>T	XP_024308867.1:p.Glu5993Val
XM_024453100.1:c.7832A>T	XP_024308868.1:p.Glu2611Val