Canonical Allele Identifier: CA349628927

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179485067A>G (hg19) ; chr2:g.178620340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178620340A>G , CM000664.2:g.178620340A>G	GRCh38
NC_000002.11:g.179485067A>G , CM000664.1:g.179485067A>G	GRCh37
NC_000002.10:g.179193312A>G	NCBI36
NG_011618.3:g.215463T>C , LRG_391:g.215463T>C
NG_051363.1:g.102514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38477T>C	ENSP00000343764.6:p.Val12826Ala
ENST00000342175.11:c.19562T>C	ENSP00000340554.6:p.Val6521Ala
ENST00000359218.10:c.19361T>C	ENSP00000352154.5:p.Val6454Ala
ENST00000342175.10:c.19562T>C	ENSP00000340554.6:p.Val6521Ala
ENST00000342992.10:c.38477T>C	ENSP00000343764.6:p.Val12826Ala
ENST00000359218.9:c.19361T>C	ENSP00000352154.5:p.Val6454Ala
ENST00000460472.6:c.18986T>C	ENSP00000434586.1:p.Val6329Ala
ENST00000589042.5:c.46181T>C MANE Select	ENSP00000467141.1:p.Val15394Ala
ENST00000591111.5:c.41258T>C	ENSP00000465570.1:p.Val13753Ala
ENST00000615779.4:c.41258T>C	ENSP00000483597.1:p.Val13753Ala
NM_001256850.1:c.41258T>C	NP_001243779.1:p.Val13753Ala
NM_001267550.2:c.46181T>C MANE Select	NP_001254479.2:p.Val15394Ala
NM_003319.4:c.18986T>C	NP_003310.4:p.Val6329Ala
NM_133378.4:c.38477T>C	NP_596869.4:p.Val12826Ala
NM_133432.3:c.19361T>C	NP_597676.3:p.Val6454Ala
NM_133437.4:c.19562T>C	NP_597681.4:p.Val6521Ala
XM_011511729.1:c.45278T>C	XP_011510031.1:p.Val15093Ala
XM_011511730.1:c.19172T>C	XP_011510032.1:p.Val6391Ala
XM_011511731.1:c.19031T>C	XP_011510033.1:p.Val6344Ala
XM_017004819.1:c.45074T>C	XP_016860308.1:p.Val15025Ala
XM_017004820.1:c.40472T>C	XP_016860309.1:p.Val13491Ala
XM_017004821.1:c.40469T>C	XP_016860310.1:p.Val13490Ala
XM_017004822.1:c.37511T>C	XP_016860311.1:p.Val12504Ala
XM_017004823.1:c.19127T>C	XP_016860312.1:p.Val6376Ala
XM_024453094.1:c.40622T>C	XP_024308862.1:p.Val13541Ala
XM_024453095.1:c.40619T>C	XP_024308863.1:p.Val13540Ala
XM_024453096.1:c.40052T>C	XP_024308864.1:p.Val13351Ala
XM_024453097.1:c.37394T>C	XP_024308865.1:p.Val12465Ala
XM_024453098.1:c.37313T>C	XP_024308866.1:p.Val12438Ala
XM_024453099.1:c.19076T>C	XP_024308867.1:p.Val6359Ala
XM_024453100.1:c.8930T>C	XP_024308868.1:p.Val2977Ala