Canonical Allele Identifier: CA427445261

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575176-A-G
• MyVariant Identifiers: chr2:g.88874694A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575176A>G , CM000664.2:g.88575176A>G	GRCh38
NC_000002.11:g.88874694A>G , CM000664.1:g.88874694A>G	GRCh37
NC_000002.10:g.88655809A>G	NCBI36
NG_016424.1:g.57401T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2135T>C
ENST00000682276.1:n.1752T>C
ENST00000682892.1:c.1854T>C	ENSP00000507214.1:p.Cys618=
ENST00000682952.1:n.1946T>C
ENST00000684455.1:c.1520T>C
ENST00000684642.1:c.1704T>C	ENSP00000507355.1:p.Cys568=
ENST00000684740.1:n.2485T>C
ENST00000303236.9:c.2307T>C MANE Select	ENSP00000307235.3:p.Cys769=
ENST00000652099.1:c.2501T>C
ENST00000652736.1:n.2183T>C
ENST00000303236.7:c.2307T>C	ENSP00000307235.3:p.Cys769=
ENST00000415570.1:c.1944T>C	ENSP00000412076.1:p.Cys648=
ENST00000419748.5:c.1854T>C	ENSP00000408325.1:p.Cys618=
ENST00000470706.1:n.49-99T>C
NM_001313915.1:c.1854T>C	NP_001300844.1:p.Cys618=
NM_004836.5:c.2307T>C	NP_004827.4:p.Cys769=
NM_004836.6:c.2307T>C	NP_004827.4:p.Cys769=
NR_110236.1:n.1313A>G
XM_005264649.3:c.1623T>C	XP_005264706.1:p.Cys541=
XM_017005376.2:c.1623T>C	XP_016860865.1:p.Cys541=
NM_004836.7:c.2307T>C MANE Select	NP_004827.4:p.Cys769=
NM_001313915.2:c.1854T>C	NP_001300844.1:p.Cys618=