Canonical Allele Identifier: CA427445461

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874781T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575263T>G , CM000664.2:g.88575263T>G	GRCh38
NC_000002.11:g.88874781T>G , CM000664.1:g.88874781T>G	GRCh37
NC_000002.10:g.88655896T>G	NCBI36
NG_016424.1:g.57314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2048A>C
ENST00000682276.1:n.1665A>C
ENST00000682892.1:c.1767A>C	ENSP00000507214.1:p.Pro589=
ENST00000682952.1:n.1859A>C
ENST00000684455.1:c.1433A>C
ENST00000684642.1:c.1617A>C	ENSP00000507355.1:p.Pro539=
ENST00000684740.1:n.2398A>C
ENST00000303236.9:c.2220A>C MANE Select	ENSP00000307235.3:p.Pro740=
ENST00000652099.1:c.2414A>C
ENST00000652736.1:n.2096A>C
ENST00000303236.7:c.2220A>C	ENSP00000307235.3:p.Pro740=
ENST00000415570.1:c.1857A>C	ENSP00000412076.1:p.Pro619=
ENST00000419748.5:c.1767A>C	ENSP00000408325.1:p.Pro589=
ENST00000470706.1:n.48+98A>C
NM_001313915.1:c.1767A>C	NP_001300844.1:p.Pro589=
NM_004836.5:c.2220A>C	NP_004827.4:p.Pro740=
NM_004836.6:c.2220A>C	NP_004827.4:p.Pro740=
NR_110236.1:n.1400T>G
XM_005264649.3:c.1536A>C	XP_005264706.1:p.Pro512=
XR_939749.1:n.2499A>C
XM_017005376.2:c.1536A>C	XP_016860865.1:p.Pro512=
NM_004836.7:c.2220A>C MANE Select	NP_004827.4:p.Pro740=
NM_001313915.2:c.1767A>C	NP_001300844.1:p.Pro589=