Canonical Allele Identifier: CA347592161

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1558648168
• MyVariant Identifiers: chr2:g.88874735C>G (hg19) ; chr2:g.88575217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575217C>G , CM000664.2:g.88575217C>G	GRCh38
NC_000002.11:g.88874735C>G , CM000664.1:g.88874735C>G	GRCh37
NC_000002.10:g.88655850C>G	NCBI36
NG_016424.1:g.57360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2094G>C
ENST00000682276.1:n.1711G>C
ENST00000682892.1:c.1813G>C	ENSP00000507214.1:p.Asp605His
ENST00000682952.1:n.1905G>C
ENST00000684455.1:c.1479G>C
ENST00000684642.1:c.1663G>C	ENSP00000507355.1:p.Asp555His
ENST00000684740.1:n.2444G>C
ENST00000303236.9:c.2266G>C MANE Select	ENSP00000307235.3:p.Asp756His
ENST00000652099.1:c.2460G>C
ENST00000652736.1:n.2142G>C
ENST00000303236.7:c.2266G>C	ENSP00000307235.3:p.Asp756His
ENST00000415570.1:c.1903G>C	ENSP00000412076.1:p.Asp635His
ENST00000419748.5:c.1813G>C	ENSP00000408325.1:p.Asp605His
ENST00000470706.1:n.49-140G>C
NM_001313915.1:c.1813G>C	NP_001300844.1:p.Asp605His
NM_004836.5:c.2266G>C	NP_004827.4:p.Asp756His
NM_004836.6:c.2266G>C	NP_004827.4:p.Asp756His
NR_110236.1:n.1354C>G
XM_005264649.3:c.1582G>C	XP_005264706.1:p.Asp528His
XM_017005376.2:c.1582G>C	XP_016860865.1:p.Asp528His
NM_004836.7:c.2266G>C MANE Select	NP_004827.4:p.Asp756His
NM_001313915.2:c.1813G>C	NP_001300844.1:p.Asp605His