Canonical Allele Identifier: CA347591739

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874641A>C (hg19) ; chr2:g.88575123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575123A>C , CM000664.2:g.88575123A>C	GRCh38
NC_000002.11:g.88874641A>C , CM000664.1:g.88874641A>C	GRCh37
NC_000002.10:g.88655756A>C	NCBI36
NG_016424.1:g.57454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2188T>G
ENST00000682276.1:n.1805T>G
ENST00000682892.1:c.1907T>G	ENSP00000507214.1:p.Leu636Arg
ENST00000682952.1:n.1999T>G
ENST00000684455.1:c.1573T>G
ENST00000684642.1:c.1757T>G	ENSP00000507355.1:p.Leu586Arg
ENST00000684740.1:n.2538T>G
ENST00000303236.9:c.2360T>G MANE Select	ENSP00000307235.3:p.Leu787Arg
ENST00000652099.1:c.2554T>G
ENST00000652736.1:n.2236T>G
ENST00000303236.7:c.2360T>G	ENSP00000307235.3:p.Leu787Arg
ENST00000415570.1:c.1997T>G	ENSP00000412076.1:p.Leu666Arg
ENST00000419748.5:c.1907T>G	ENSP00000408325.1:p.Leu636Arg
ENST00000470706.1:n.49-46T>G
NM_001313915.1:c.1907T>G	NP_001300844.1:p.Leu636Arg
NM_004836.5:c.2360T>G	NP_004827.4:p.Leu787Arg
NM_004836.6:c.2360T>G	NP_004827.4:p.Leu787Arg
NR_110236.1:n.1260A>C
XM_005264649.3:c.1676T>G	XP_005264706.1:p.Leu559Arg
XM_017005376.2:c.1676T>G	XP_016860865.1:p.Leu559Arg
NM_004836.7:c.2360T>G MANE Select	NP_004827.4:p.Leu787Arg
NM_001313915.2:c.1907T>G	NP_001300844.1:p.Leu636Arg