Canonical Allele Identifier: CA349612361

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433730A>T (hg19) ; chr2:g.178569003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569003A>T , CM000664.2:g.178569003A>T	GRCh38
NC_000002.11:g.179433730A>T , CM000664.1:g.179433730A>T	GRCh37
NC_000002.10:g.179141976A>T	NCBI36
NG_011618.3:g.266800T>A , LRG_391:g.266800T>A
NG_051363.1:g.51177A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69425T>A (TTN)	ENSP00000343764.6:p.Val23142Asp
ENST00000342175.11:c.50510T>A (TTN)	ENSP00000340554.6:p.Val16837Asp
ENST00000359218.10:c.50309T>A (TTN)	ENSP00000352154.5:p.Val16770Asp
ENST00000342175.10:c.50510T>A (TTN)	ENSP00000340554.6:p.Val16837Asp
ENST00000342992.10:c.69425T>A (TTN)	ENSP00000343764.6:p.Val23142Asp
ENST00000359218.9:c.50309T>A (TTN)	ENSP00000352154.5:p.Val16770Asp
ENST00000460472.6:c.49934T>A (TTN)	ENSP00000434586.1:p.Val16645Asp
ENST00000589042.5:c.77129T>A (TTN) MANE Select	ENSP00000467141.1:p.Val25710Asp
ENST00000591111.5:c.72206T>A (TTN)	ENSP00000465570.1:p.Val24069Asp
ENST00000615779.4:c.72206T>A (TTN)	ENSP00000483597.1:p.Val24069Asp
NM_001256850.1:c.72206T>A (TTN)	NP_001243779.1:p.Val24069Asp
NM_001267550.2:c.77129T>A (TTN) MANE Select	NP_001254479.2:p.Val25710Asp
NM_003319.4:c.49934T>A (TTN)	NP_003310.4:p.Val16645Asp
NM_133378.4:c.69425T>A (TTN)	NP_596869.4:p.Val23142Asp
NM_133432.3:c.50309T>A (TTN)	NP_597676.3:p.Val16770Asp
NM_133437.4:c.50510T>A (TTN)	NP_597681.4:p.Val16837Asp
NR_038271.1:n.447-2297A>T (TTN-AS1)
NR_038272.1:n.2044-13569A>T (TTN-AS1)
XM_011511729.1:c.76226T>A (TTN)	XP_011510031.1:p.Val25409Asp
XM_011511730.1:c.50120T>A (TTN)	XP_011510032.1:p.Val16707Asp
XM_011511731.1:c.49979T>A (TTN)	XP_011510033.1:p.Val16660Asp
XM_017004819.1:c.76022T>A (TTN)	XP_016860308.1:p.Val25341Asp
XM_017004820.1:c.71420T>A (TTN)	XP_016860309.1:p.Val23807Asp
XM_017004821.1:c.71417T>A (TTN)	XP_016860310.1:p.Val23806Asp
XM_017004822.1:c.68459T>A (TTN)	XP_016860311.1:p.Val22820Asp
XM_017004823.1:c.50075T>A (TTN)	XP_016860312.1:p.Val16692Asp
XM_024453094.1:c.71570T>A (TTN)	XP_024308862.1:p.Val23857Asp
XM_024453095.1:c.71567T>A (TTN)	XP_024308863.1:p.Val23856Asp
XM_024453096.1:c.71000T>A (TTN)	XP_024308864.1:p.Val23667Asp
XM_024453097.1:c.68342T>A (TTN)	XP_024308865.1:p.Val22781Asp
XM_024453098.1:c.68261T>A (TTN)	XP_024308866.1:p.Val22754Asp
XM_024453099.1:c.50024T>A (TTN)	XP_024308867.1:p.Val16675Asp
XM_024453100.1:c.39878T>A (TTN)	XP_024308868.1:p.Val13293Asp