Canonical Allele Identifier: CA349496479

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457773A>T (hg19) ; chr2:g.178593046A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593046A>T , CM000664.2:g.178593046A>T	GRCh38
NC_000002.11:g.179457773A>T , CM000664.1:g.179457773A>T	GRCh37
NC_000002.10:g.179166019A>T	NCBI36
NG_011618.3:g.242757T>A , LRG_391:g.242757T>A
NG_051363.1:g.75220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51369T>A (TTN)	ENSP00000343764.6:p.Asp17123Glu
ENST00000342175.11:c.32454T>A (TTN)	ENSP00000340554.6:p.Asp10818Glu
ENST00000359218.10:c.32253T>A (TTN)	ENSP00000352154.5:p.Asp10751Glu
ENST00000342175.10:c.32454T>A (TTN)	ENSP00000340554.6:p.Asp10818Glu
ENST00000342992.10:c.51369T>A (TTN)	ENSP00000343764.6:p.Asp17123Glu
ENST00000359218.9:c.32253T>A (TTN)	ENSP00000352154.5:p.Asp10751Glu
ENST00000460472.6:c.31878T>A (TTN)	ENSP00000434586.1:p.Asp10626Glu
ENST00000589042.5:c.59073T>A (TTN) MANE Select	ENSP00000467141.1:p.Asp19691Glu
ENST00000591111.5:c.54150T>A (TTN)	ENSP00000465570.1:p.Asp18050Glu
ENST00000615779.4:c.54150T>A (TTN)	ENSP00000483597.1:p.Asp18050Glu
NM_001256850.1:c.54150T>A (TTN)	NP_001243779.1:p.Asp18050Glu
NM_001267550.2:c.59073T>A (TTN) MANE Select	NP_001254479.2:p.Asp19691Glu
NM_003319.4:c.31878T>A (TTN)	NP_003310.4:p.Asp10626Glu
NM_133378.4:c.51369T>A (TTN)	NP_596869.4:p.Asp17123Glu
NM_133432.3:c.32253T>A (TTN)	NP_597676.3:p.Asp10751Glu
NM_133437.4:c.32454T>A (TTN)	NP_597681.4:p.Asp10818Glu
NR_038271.1:n.597-4550A>T (TTN-AS1)
NR_038272.1:n.3364+1732A>T (TTN-AS1)
XM_011511729.1:c.58170T>A (TTN)	XP_011510031.1:p.Asp19390Glu
XM_011511730.1:c.32064T>A (TTN)	XP_011510032.1:p.Asp10688Glu
XM_011511731.1:c.31923T>A (TTN)	XP_011510033.1:p.Asp10641Glu
XM_017004819.1:c.57966T>A (TTN)	XP_016860308.1:p.Asp19322Glu
XM_017004820.1:c.53364T>A (TTN)	XP_016860309.1:p.Asp17788Glu
XM_017004821.1:c.53361T>A (TTN)	XP_016860310.1:p.Asp17787Glu
XM_017004822.1:c.50403T>A (TTN)	XP_016860311.1:p.Asp16801Glu
XM_017004823.1:c.32019T>A (TTN)	XP_016860312.1:p.Asp10673Glu
XM_024453094.1:c.53514T>A (TTN)	XP_024308862.1:p.Asp17838Glu
XM_024453095.1:c.53511T>A (TTN)	XP_024308863.1:p.Asp17837Glu
XM_024453096.1:c.52944T>A (TTN)	XP_024308864.1:p.Asp17648Glu
XM_024453097.1:c.50286T>A (TTN)	XP_024308865.1:p.Asp16762Glu
XM_024453098.1:c.50205T>A (TTN)	XP_024308866.1:p.Asp16735Glu
XM_024453099.1:c.31968T>A (TTN)	XP_024308867.1:p.Asp10656Glu
XM_024453100.1:c.21822T>A (TTN)	XP_024308868.1:p.Asp7274Glu