Canonical Allele Identifier: CA347591929

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874686T>G (hg19) ; chr2:g.88575168T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575168T>G , CM000664.2:g.88575168T>G	GRCh38
NC_000002.11:g.88874686T>G , CM000664.1:g.88874686T>G	GRCh37
NC_000002.10:g.88655801T>G	NCBI36
NG_016424.1:g.57409A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2143A>C
ENST00000682276.1:n.1760A>C
ENST00000682892.1:c.1862A>C	ENSP00000507214.1:p.Glu621Ala
ENST00000682952.1:n.1954A>C
ENST00000684455.1:c.1528A>C
ENST00000684642.1:c.1712A>C	ENSP00000507355.1:p.Glu571Ala
ENST00000684740.1:n.2493A>C
ENST00000303236.9:c.2315A>C MANE Select	ENSP00000307235.3:p.Glu772Ala
ENST00000652099.1:c.2509A>C
ENST00000652736.1:n.2191A>C
ENST00000303236.7:c.2315A>C	ENSP00000307235.3:p.Glu772Ala
ENST00000415570.1:c.1952A>C	ENSP00000412076.1:p.Glu651Ala
ENST00000419748.5:c.1862A>C	ENSP00000408325.1:p.Glu621Ala
ENST00000470706.1:n.49-91A>C
NM_001313915.1:c.1862A>C	NP_001300844.1:p.Glu621Ala
NM_004836.5:c.2315A>C	NP_004827.4:p.Glu772Ala
NM_004836.6:c.2315A>C	NP_004827.4:p.Glu772Ala
NR_110236.1:n.1305T>G
XM_005264649.3:c.1631A>C	XP_005264706.1:p.Glu544Ala
XM_017005376.2:c.1631A>C	XP_016860865.1:p.Glu544Ala
NM_004836.7:c.2315A>C MANE Select	NP_004827.4:p.Glu772Ala
NM_001313915.2:c.1862A>C	NP_001300844.1:p.Glu621Ala