Canonical Allele Identifier: CA349612850

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433827C>T (hg19) ; chr2:g.178569100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569100C>T , CM000664.2:g.178569100C>T	GRCh38
NC_000002.11:g.179433827C>T , CM000664.1:g.179433827C>T	GRCh37
NC_000002.10:g.179142073C>T	NCBI36
NG_011618.3:g.266703G>A , LRG_391:g.266703G>A
NG_051363.1:g.51274C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69328G>A (TTN)	ENSP00000343764.6:p.Glu23110Lys
ENST00000342175.11:c.50413G>A (TTN)	ENSP00000340554.6:p.Glu16805Lys
ENST00000359218.10:c.50212G>A (TTN)	ENSP00000352154.5:p.Glu16738Lys
ENST00000342175.10:c.50413G>A (TTN)	ENSP00000340554.6:p.Glu16805Lys
ENST00000342992.10:c.69328G>A (TTN)	ENSP00000343764.6:p.Glu23110Lys
ENST00000359218.9:c.50212G>A (TTN)	ENSP00000352154.5:p.Glu16738Lys
ENST00000460472.6:c.49837G>A (TTN)	ENSP00000434586.1:p.Glu16613Lys
ENST00000589042.5:c.77032G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu25678Lys
ENST00000591111.5:c.72109G>A (TTN)	ENSP00000465570.1:p.Glu24037Lys
ENST00000615779.4:c.72109G>A (TTN)	ENSP00000483597.1:p.Glu24037Lys
NM_001256850.1:c.72109G>A (TTN)	NP_001243779.1:p.Glu24037Lys
NM_001267550.2:c.77032G>A (TTN) MANE Select	NP_001254479.2:p.Glu25678Lys
NM_003319.4:c.49837G>A (TTN)	NP_003310.4:p.Glu16613Lys
NM_133378.4:c.69328G>A (TTN)	NP_596869.4:p.Glu23110Lys
NM_133432.3:c.50212G>A (TTN)	NP_597676.3:p.Glu16738Lys
NM_133437.4:c.50413G>A (TTN)	NP_597681.4:p.Glu16805Lys
NR_038271.1:n.447-2200C>T (TTN-AS1)
NR_038272.1:n.2044-13472C>T (TTN-AS1)
XM_011511729.1:c.76129G>A (TTN)	XP_011510031.1:p.Glu25377Lys
XM_011511730.1:c.50023G>A (TTN)	XP_011510032.1:p.Glu16675Lys
XM_011511731.1:c.49882G>A (TTN)	XP_011510033.1:p.Glu16628Lys
XM_017004819.1:c.75925G>A (TTN)	XP_016860308.1:p.Glu25309Lys
XM_017004820.1:c.71323G>A (TTN)	XP_016860309.1:p.Glu23775Lys
XM_017004821.1:c.71320G>A (TTN)	XP_016860310.1:p.Glu23774Lys
XM_017004822.1:c.68362G>A (TTN)	XP_016860311.1:p.Glu22788Lys
XM_017004823.1:c.49978G>A (TTN)	XP_016860312.1:p.Glu16660Lys
XM_024453094.1:c.71473G>A (TTN)	XP_024308862.1:p.Glu23825Lys
XM_024453095.1:c.71470G>A (TTN)	XP_024308863.1:p.Glu23824Lys
XM_024453096.1:c.70903G>A (TTN)	XP_024308864.1:p.Glu23635Lys
XM_024453097.1:c.68245G>A (TTN)	XP_024308865.1:p.Glu22749Lys
XM_024453098.1:c.68164G>A (TTN)	XP_024308866.1:p.Glu22722Lys
XM_024453099.1:c.49927G>A (TTN)	XP_024308867.1:p.Glu16643Lys
XM_024453100.1:c.39781G>A (TTN)	XP_024308868.1:p.Glu13261Lys