Canonical Allele Identifier: CA349621862

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435283T>A (hg19) ; chr2:g.178570556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570556T>A , CM000664.2:g.178570556T>A	GRCh38
NC_000002.11:g.179435283T>A , CM000664.1:g.179435283T>A	GRCh37
NC_000002.10:g.179143529T>A	NCBI36
NG_011618.3:g.265247A>T , LRG_391:g.265247A>T
NG_051363.1:g.52730T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67872A>T (TTN)	ENSP00000343764.6:p.Glu22624Asp
ENST00000342175.11:c.48957A>T (TTN)	ENSP00000340554.6:p.Glu16319Asp
ENST00000359218.10:c.48756A>T (TTN)	ENSP00000352154.5:p.Glu16252Asp
ENST00000342175.10:c.48957A>T (TTN)	ENSP00000340554.6:p.Glu16319Asp
ENST00000342992.10:c.67872A>T (TTN)	ENSP00000343764.6:p.Glu22624Asp
ENST00000359218.9:c.48756A>T (TTN)	ENSP00000352154.5:p.Glu16252Asp
ENST00000460472.6:c.48381A>T (TTN)	ENSP00000434586.1:p.Glu16127Asp
ENST00000589042.5:c.75576A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25192Asp
ENST00000591111.5:c.70653A>T (TTN)	ENSP00000465570.1:p.Glu23551Asp
ENST00000615779.4:c.70653A>T (TTN)	ENSP00000483597.1:p.Glu23551Asp
NM_001256850.1:c.70653A>T (TTN)	NP_001243779.1:p.Glu23551Asp
NM_001267550.2:c.75576A>T (TTN) MANE Select	NP_001254479.2:p.Glu25192Asp
NM_003319.4:c.48381A>T (TTN)	NP_003310.4:p.Glu16127Asp
NM_133378.4:c.67872A>T (TTN)	NP_596869.4:p.Glu22624Asp
NM_133432.3:c.48756A>T (TTN)	NP_597676.3:p.Glu16252Asp
NM_133437.4:c.48957A>T (TTN)	NP_597681.4:p.Glu16319Asp
NR_038271.1:n.447-744T>A (TTN-AS1)
NR_038272.1:n.2044-12016T>A (TTN-AS1)
XM_011511729.1:c.74673A>T (TTN)	XP_011510031.1:p.Glu24891Asp
XM_011511730.1:c.48567A>T (TTN)	XP_011510032.1:p.Glu16189Asp
XM_011511731.1:c.48426A>T (TTN)	XP_011510033.1:p.Glu16142Asp
XM_017004819.1:c.74469A>T (TTN)	XP_016860308.1:p.Glu24823Asp
XM_017004820.1:c.69867A>T (TTN)	XP_016860309.1:p.Glu23289Asp
XM_017004821.1:c.69864A>T (TTN)	XP_016860310.1:p.Glu23288Asp
XM_017004822.1:c.66906A>T (TTN)	XP_016860311.1:p.Glu22302Asp
XM_017004823.1:c.48522A>T (TTN)	XP_016860312.1:p.Glu16174Asp
XM_024453094.1:c.70017A>T (TTN)	XP_024308862.1:p.Glu23339Asp
XM_024453095.1:c.70014A>T (TTN)	XP_024308863.1:p.Glu23338Asp
XM_024453096.1:c.69447A>T (TTN)	XP_024308864.1:p.Glu23149Asp
XM_024453097.1:c.66789A>T (TTN)	XP_024308865.1:p.Glu22263Asp
XM_024453098.1:c.66708A>T (TTN)	XP_024308866.1:p.Glu22236Asp
XM_024453099.1:c.48471A>T (TTN)	XP_024308867.1:p.Glu16157Asp
XM_024453100.1:c.38325A>T (TTN)	XP_024308868.1:p.Glu12775Asp