Canonical Allele Identifier: CA349494221

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457514T>C (hg19) ; chr2:g.178592787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592787T>C , CM000664.2:g.178592787T>C	GRCh38
NC_000002.11:g.179457514T>C , CM000664.1:g.179457514T>C	GRCh37
NC_000002.10:g.179165760T>C	NCBI36
NG_011618.3:g.243016A>G , LRG_391:g.243016A>G
NG_051363.1:g.74961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51628A>G (TTN)	ENSP00000343764.6:p.Lys17210Glu
ENST00000342175.11:c.32713A>G (TTN)	ENSP00000340554.6:p.Lys10905Glu
ENST00000359218.10:c.32512A>G (TTN)	ENSP00000352154.5:p.Lys10838Glu
ENST00000342175.10:c.32713A>G (TTN)	ENSP00000340554.6:p.Lys10905Glu
ENST00000342992.10:c.51628A>G (TTN)	ENSP00000343764.6:p.Lys17210Glu
ENST00000359218.9:c.32512A>G (TTN)	ENSP00000352154.5:p.Lys10838Glu
ENST00000460472.6:c.32137A>G (TTN)	ENSP00000434586.1:p.Lys10713Glu
ENST00000589042.5:c.59332A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys19778Glu
ENST00000591111.5:c.54409A>G (TTN)	ENSP00000465570.1:p.Lys18137Glu
ENST00000615779.4:c.54409A>G (TTN)	ENSP00000483597.1:p.Lys18137Glu
NM_001256850.1:c.54409A>G (TTN)	NP_001243779.1:p.Lys18137Glu
NM_001267550.2:c.59332A>G (TTN) MANE Select	NP_001254479.2:p.Lys19778Glu
NM_003319.4:c.32137A>G (TTN)	NP_003310.4:p.Lys10713Glu
NM_133378.4:c.51628A>G (TTN)	NP_596869.4:p.Lys17210Glu
NM_133432.3:c.32512A>G (TTN)	NP_597676.3:p.Lys10838Glu
NM_133437.4:c.32713A>G (TTN)	NP_597681.4:p.Lys10905Glu
NR_038271.1:n.597-4809T>C (TTN-AS1)
NR_038272.1:n.3364+1473T>C (TTN-AS1)
XM_011511729.1:c.58429A>G (TTN)	XP_011510031.1:p.Lys19477Glu
XM_011511730.1:c.32323A>G (TTN)	XP_011510032.1:p.Lys10775Glu
XM_011511731.1:c.32182A>G (TTN)	XP_011510033.1:p.Lys10728Glu
XM_017004819.1:c.58225A>G (TTN)	XP_016860308.1:p.Lys19409Glu
XM_017004820.1:c.53623A>G (TTN)	XP_016860309.1:p.Lys17875Glu
XM_017004821.1:c.53620A>G (TTN)	XP_016860310.1:p.Lys17874Glu
XM_017004822.1:c.50662A>G (TTN)	XP_016860311.1:p.Lys16888Glu
XM_017004823.1:c.32278A>G (TTN)	XP_016860312.1:p.Lys10760Glu
XM_024453094.1:c.53773A>G (TTN)	XP_024308862.1:p.Lys17925Glu
XM_024453095.1:c.53770A>G (TTN)	XP_024308863.1:p.Lys17924Glu
XM_024453096.1:c.53203A>G (TTN)	XP_024308864.1:p.Lys17735Glu
XM_024453097.1:c.50545A>G (TTN)	XP_024308865.1:p.Lys16849Glu
XM_024453098.1:c.50464A>G (TTN)	XP_024308866.1:p.Lys16822Glu
XM_024453099.1:c.32227A>G (TTN)	XP_024308867.1:p.Lys10743Glu
XM_024453100.1:c.22081A>G (TTN)	XP_024308868.1:p.Lys7361Glu