Canonical Allele Identifier: CA51486306

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs908796009
• MyVariant Identifiers: chr2:g.88874601C>G (hg19) ; chr2:g.88575083C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575083C>G , CM000664.2:g.88575083C>G	GRCh38
NC_000002.11:g.88874601C>G , CM000664.1:g.88874601C>G	GRCh37
NC_000002.10:g.88655716C>G	NCBI36
NG_016424.1:g.57494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2228G>C
ENST00000682276.1:n.1845G>C
ENST00000682892.1:c.1947G>C	ENSP00000507214.1:p.Glu649Asp
ENST00000682952.1:n.2039G>C
ENST00000684455.1:c.1613G>C
ENST00000684642.1:c.1797G>C	ENSP00000507355.1:p.Glu599Asp
ENST00000684740.1:n.2578G>C
ENST00000303236.9:c.2400G>C MANE Select	ENSP00000307235.3:p.Glu800Asp
ENST00000652099.1:c.2594G>C
ENST00000652736.1:n.2276G>C
ENST00000303236.7:c.2400G>C	ENSP00000307235.3:p.Glu800Asp
ENST00000415570.1:c.2037G>C	ENSP00000412076.1:p.Glu679Asp
ENST00000419748.5:c.1947G>C	ENSP00000408325.1:p.Glu649Asp
ENST00000470706.1:n.49-6G>C
NM_001313915.1:c.1947G>C	NP_001300844.1:p.Glu649Asp
NM_004836.5:c.2400G>C	NP_004827.4:p.Glu800Asp
NM_004836.6:c.2400G>C	NP_004827.4:p.Glu800Asp
NR_110236.1:n.1220C>G
XM_005264649.3:c.1716G>C	XP_005264706.1:p.Glu572Asp
XM_017005376.2:c.1716G>C	XP_016860865.1:p.Glu572Asp
NM_004836.7:c.2400G>C MANE Select	NP_004827.4:p.Glu800Asp
NM_001313915.2:c.1947G>C	NP_001300844.1:p.Glu649Asp