Canonical Allele Identifier: CA347592010

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874704A>T (hg19) ; chr2:g.88575186A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575186A>T , CM000664.2:g.88575186A>T	GRCh38
NC_000002.11:g.88874704A>T , CM000664.1:g.88874704A>T	GRCh37
NC_000002.10:g.88655819A>T	NCBI36
NG_016424.1:g.57391T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2125T>A
ENST00000682276.1:n.1742T>A
ENST00000682892.1:c.1844T>A	ENSP00000507214.1:p.Leu615His
ENST00000682952.1:n.1936T>A
ENST00000684455.1:c.1510T>A
ENST00000684642.1:c.1694T>A	ENSP00000507355.1:p.Leu565His
ENST00000684740.1:n.2475T>A
ENST00000303236.9:c.2297T>A MANE Select	ENSP00000307235.3:p.Leu766His
ENST00000652099.1:c.2491T>A
ENST00000652736.1:n.2173T>A
ENST00000303236.7:c.2297T>A	ENSP00000307235.3:p.Leu766His
ENST00000415570.1:c.1934T>A	ENSP00000412076.1:p.Leu645His
ENST00000419748.5:c.1844T>A	ENSP00000408325.1:p.Leu615His
ENST00000470706.1:n.49-109T>A
NM_001313915.1:c.1844T>A	NP_001300844.1:p.Leu615His
NM_004836.5:c.2297T>A	NP_004827.4:p.Leu766His
NM_004836.6:c.2297T>A	NP_004827.4:p.Leu766His
NR_110236.1:n.1323A>T
XM_005264649.3:c.1613T>A	XP_005264706.1:p.Leu538His
XM_017005376.2:c.1613T>A	XP_016860865.1:p.Leu538His
NM_004836.7:c.2297T>A MANE Select	NP_004827.4:p.Leu766His
NM_001313915.2:c.1844T>A	NP_001300844.1:p.Leu615His