Canonical Allele Identifier: CA349465201

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454138C>A (hg19) ; chr2:g.178589411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589411C>A , CM000664.2:g.178589411C>A	GRCh38
NC_000002.11:g.179454138C>A , CM000664.1:g.179454138C>A	GRCh37
NC_000002.10:g.179162384C>A	NCBI36
NG_011618.3:g.246392G>T , LRG_391:g.246392G>T
NG_051363.1:g.71585C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54610G>T (TTN)	ENSP00000343764.6:p.Asp18204Tyr
ENST00000342175.11:c.35695G>T (TTN)	ENSP00000340554.6:p.Asp11899Tyr
ENST00000359218.10:c.35494G>T (TTN)	ENSP00000352154.5:p.Asp11832Tyr
ENST00000342175.10:c.35695G>T (TTN)	ENSP00000340554.6:p.Asp11899Tyr
ENST00000342992.10:c.54610G>T (TTN)	ENSP00000343764.6:p.Asp18204Tyr
ENST00000359218.9:c.35494G>T (TTN)	ENSP00000352154.5:p.Asp11832Tyr
ENST00000460472.6:c.35119G>T (TTN)	ENSP00000434586.1:p.Asp11707Tyr
ENST00000589042.5:c.62314G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp20772Tyr
ENST00000591111.5:c.57391G>T (TTN)	ENSP00000465570.1:p.Asp19131Tyr
ENST00000615779.4:c.57391G>T (TTN)	ENSP00000483597.1:p.Asp19131Tyr
NM_001256850.1:c.57391G>T (TTN)	NP_001243779.1:p.Asp19131Tyr
NM_001267550.2:c.62314G>T (TTN) MANE Select	NP_001254479.2:p.Asp20772Tyr
NM_003319.4:c.35119G>T (TTN)	NP_003310.4:p.Asp11707Tyr
NM_133378.4:c.54610G>T (TTN)	NP_596869.4:p.Asp18204Tyr
NM_133432.3:c.35494G>T (TTN)	NP_597676.3:p.Asp11832Tyr
NM_133437.4:c.35695G>T (TTN)	NP_597681.4:p.Asp11899Tyr
NR_038271.1:n.597-8185C>A (TTN-AS1)
NR_038272.1:n.3189-1728C>A (TTN-AS1)
XM_011511729.1:c.61411G>T (TTN)	XP_011510031.1:p.Asp20471Tyr
XM_011511730.1:c.35305G>T (TTN)	XP_011510032.1:p.Asp11769Tyr
XM_011511731.1:c.35164G>T (TTN)	XP_011510033.1:p.Asp11722Tyr
XM_017004819.1:c.61207G>T (TTN)	XP_016860308.1:p.Asp20403Tyr
XM_017004820.1:c.56605G>T (TTN)	XP_016860309.1:p.Asp18869Tyr
XM_017004821.1:c.56602G>T (TTN)	XP_016860310.1:p.Asp18868Tyr
XM_017004822.1:c.53644G>T (TTN)	XP_016860311.1:p.Asp17882Tyr
XM_017004823.1:c.35260G>T (TTN)	XP_016860312.1:p.Asp11754Tyr
XM_024453094.1:c.56755G>T (TTN)	XP_024308862.1:p.Asp18919Tyr
XM_024453095.1:c.56752G>T (TTN)	XP_024308863.1:p.Asp18918Tyr
XM_024453096.1:c.56185G>T (TTN)	XP_024308864.1:p.Asp18729Tyr
XM_024453097.1:c.53527G>T (TTN)	XP_024308865.1:p.Asp17843Tyr
XM_024453098.1:c.53446G>T (TTN)	XP_024308866.1:p.Asp17816Tyr
XM_024453099.1:c.35209G>T (TTN)	XP_024308867.1:p.Asp11737Tyr
XM_024453100.1:c.25063G>T (TTN)	XP_024308868.1:p.Asp8355Tyr