Canonical Allele Identifier: CA1995706

Gene: TTN

Linked Data

• dbSNP Id: rs763411790
• ExAC: 2:179494981 G / A
• gnomAD v2: 2-179494981-G-A
• gnomAD v4: 2-178630254-G-A
• MyVariant Identifiers: chr2:g.179494981G>A (hg19) ; chr2:g.178630254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630254G>A , CM000664.2:g.178630254G>A	GRCh38
NC_000002.11:g.179494981G>A , CM000664.1:g.179494981G>A	GRCh37
NC_000002.10:g.179203226G>A	NCBI36
NG_011618.3:g.205549C>T , LRG_391:g.205549C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36564C>T	ENSP00000343764.6:p.His12188=
ENST00000342175.11:c.17649C>T	ENSP00000340554.6:p.His5883=
ENST00000359218.10:c.17448C>T	ENSP00000352154.5:p.His5816=
ENST00000342175.10:c.17649C>T	ENSP00000340554.6:p.His5883=
ENST00000342992.10:c.36564C>T	ENSP00000343764.6:p.His12188=
ENST00000359218.9:c.17448C>T	ENSP00000352154.5:p.His5816=
ENST00000460472.6:c.17073C>T	ENSP00000434586.1:p.His5691=
ENST00000589042.5:c.44268C>T MANE Select	ENSP00000467141.1:p.His14756=
ENST00000591111.5:c.39345C>T	ENSP00000465570.1:p.His13115=
ENST00000615779.4:c.39345C>T	ENSP00000483597.1:p.His13115=
NM_001256850.1:c.39345C>T	NP_001243779.1:p.His13115=
NM_001267550.2:c.44268C>T MANE Select	NP_001254479.2:p.His14756=
NM_003319.4:c.17073C>T	NP_003310.4:p.His5691=
NM_133378.4:c.36564C>T	NP_596869.4:p.His12188=
NM_133432.3:c.17448C>T	NP_597676.3:p.His5816=
NM_133437.4:c.17649C>T	NP_597681.4:p.His5883=
XM_011511729.1:c.43365C>T	XP_011510031.1:p.His14455=
XM_011511730.1:c.17259C>T	XP_011510032.1:p.His5753=
XM_011511731.1:c.17118C>T	XP_011510033.1:p.His5706=
XM_017004819.1:c.43161C>T	XP_016860308.1:p.His14387=
XM_017004820.1:c.38559C>T	XP_016860309.1:p.His12853=
XM_017004821.1:c.38556C>T	XP_016860310.1:p.His12852=
XM_017004822.1:c.35598C>T	XP_016860311.1:p.His11866=
XM_017004823.1:c.17214C>T	XP_016860312.1:p.His5738=
XM_024453094.1:c.38709C>T	XP_024308862.1:p.His12903=
XM_024453095.1:c.38706C>T	XP_024308863.1:p.His12902=
XM_024453096.1:c.38139C>T	XP_024308864.1:p.His12713=
XM_024453097.1:c.35481C>T	XP_024308865.1:p.His11827=
XM_024453098.1:c.35400C>T	XP_024308866.1:p.His11800=
XM_024453099.1:c.17163C>T	XP_024308867.1:p.His5721=
XM_024453100.1:c.7017C>T	XP_024308868.1:p.His2339=