Canonical Allele Identifier: CA427445509

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874802T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575284T>G , CM000664.2:g.88575284T>G	GRCh38
NC_000002.11:g.88874802T>G , CM000664.1:g.88874802T>G	GRCh37
NC_000002.10:g.88655917T>G	NCBI36
NG_016424.1:g.57293A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2027A>C
ENST00000682276.1:n.1644A>C
ENST00000682892.1:c.1746A>C	ENSP00000507214.1:p.Ser582=
ENST00000682952.1:n.1838A>C
ENST00000684455.1:c.1412A>C
ENST00000684642.1:c.1596A>C	ENSP00000507355.1:p.Ser532=
ENST00000684740.1:n.2377A>C
ENST00000303236.9:c.2199A>C MANE Select	ENSP00000307235.3:p.Ser733=
ENST00000652099.1:c.2393A>C
ENST00000652736.1:n.2075A>C
ENST00000303236.7:c.2199A>C	ENSP00000307235.3:p.Ser733=
ENST00000415570.1:c.1836A>C	ENSP00000412076.1:p.Ser612=
ENST00000419748.5:c.1746A>C	ENSP00000408325.1:p.Ser582=
ENST00000470706.1:n.48+77A>C
NM_001313915.1:c.1746A>C	NP_001300844.1:p.Ser582=
NM_004836.5:c.2199A>C	NP_004827.4:p.Ser733=
NM_004836.6:c.2199A>C	NP_004827.4:p.Ser733=
NR_110236.1:n.1421T>G
XM_005264649.3:c.1515A>C	XP_005264706.1:p.Ser505=
XR_939749.1:n.2478A>C
XM_017005376.2:c.1515A>C	XP_016860865.1:p.Ser505=
NM_004836.7:c.2199A>C MANE Select	NP_004827.4:p.Ser733=
NM_001313915.2:c.1746A>C	NP_001300844.1:p.Ser582=