Canonical Allele Identifier: CA349612360

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69425T>C (TTN)	ENSP00000343764.6:p.Val23142Ala
ENST00000342175.11:c.50510T>C (TTN)	ENSP00000340554.6:p.Val16837Ala
ENST00000359218.10:c.50309T>C (TTN)	ENSP00000352154.5:p.Val16770Ala
ENST00000342175.10:c.50510T>C (TTN)	ENSP00000340554.6:p.Val16837Ala
ENST00000342992.10:c.69425T>C (TTN)	ENSP00000343764.6:p.Val23142Ala
ENST00000359218.9:c.50309T>C (TTN)	ENSP00000352154.5:p.Val16770Ala
ENST00000460472.6:c.49934T>C (TTN)	ENSP00000434586.1:p.Val16645Ala
ENST00000589042.5:c.77129T>C (TTN) MANE Select	ENSP00000467141.1:p.Val25710Ala
ENST00000591111.5:c.72206T>C (TTN)	ENSP00000465570.1:p.Val24069Ala
ENST00000615779.4:c.72206T>C (TTN)	ENSP00000483597.1:p.Val24069Ala
NM_001256850.1:c.72206T>C (TTN)	NP_001243779.1:p.Val24069Ala
NM_001267550.2:c.77129T>C (TTN) MANE Select	NP_001254479.2:p.Val25710Ala
NM_003319.4:c.49934T>C (TTN)	NP_003310.4:p.Val16645Ala
NM_133378.4:c.69425T>C (TTN)	NP_596869.4:p.Val23142Ala
NM_133432.3:c.50309T>C (TTN)	NP_597676.3:p.Val16770Ala
NM_133437.4:c.50510T>C (TTN)	NP_597681.4:p.Val16837Ala
NR_038271.1:n.447-2297A>G (TTN-AS1)
NR_038272.1:n.2044-13569A>G (TTN-AS1)
XM_011511729.1:c.76226T>C (TTN)	XP_011510031.1:p.Val25409Ala
XM_011511730.1:c.50120T>C (TTN)	XP_011510032.1:p.Val16707Ala
XM_011511731.1:c.49979T>C (TTN)	XP_011510033.1:p.Val16660Ala
XM_017004819.1:c.76022T>C (TTN)	XP_016860308.1:p.Val25341Ala
XM_017004820.1:c.71420T>C (TTN)	XP_016860309.1:p.Val23807Ala
XM_017004821.1:c.71417T>C (TTN)	XP_016860310.1:p.Val23806Ala
XM_017004822.1:c.68459T>C (TTN)	XP_016860311.1:p.Val22820Ala
XM_017004823.1:c.50075T>C (TTN)	XP_016860312.1:p.Val16692Ala
XM_024453094.1:c.71570T>C (TTN)	XP_024308862.1:p.Val23857Ala
XM_024453095.1:c.71567T>C (TTN)	XP_024308863.1:p.Val23856Ala
XM_024453096.1:c.71000T>C (TTN)	XP_024308864.1:p.Val23667Ala
XM_024453097.1:c.68342T>C (TTN)	XP_024308865.1:p.Val22781Ala
XM_024453098.1:c.68261T>C (TTN)	XP_024308866.1:p.Val22754Ala
XM_024453099.1:c.50024T>C (TTN)	XP_024308867.1:p.Val16675Ala
XM_024453100.1:c.39878T>C (TTN)	XP_024308868.1:p.Val13293Ala