Canonical Allele Identifier: CA347592444

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874794C>G (hg19) ; chr2:g.88575276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575276C>G , CM000664.2:g.88575276C>G	GRCh38
NC_000002.11:g.88874794C>G , CM000664.1:g.88874794C>G	GRCh37
NC_000002.10:g.88655909C>G	NCBI36
NG_016424.1:g.57301G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2035G>C
ENST00000682276.1:n.1652G>C
ENST00000682892.1:c.1754G>C	ENSP00000507214.1:p.Ser585Thr
ENST00000682952.1:n.1846G>C
ENST00000684455.1:c.1420G>C
ENST00000684642.1:c.1604G>C	ENSP00000507355.1:p.Ser535Thr
ENST00000684740.1:n.2385G>C
ENST00000303236.9:c.2207G>C MANE Select	ENSP00000307235.3:p.Ser736Thr
ENST00000652099.1:c.2401G>C
ENST00000652736.1:n.2083G>C
ENST00000303236.7:c.2207G>C	ENSP00000307235.3:p.Ser736Thr
ENST00000415570.1:c.1844G>C	ENSP00000412076.1:p.Ser615Thr
ENST00000419748.5:c.1754G>C	ENSP00000408325.1:p.Ser585Thr
ENST00000470706.1:n.48+85G>C
NM_001313915.1:c.1754G>C	NP_001300844.1:p.Ser585Thr
NM_004836.5:c.2207G>C	NP_004827.4:p.Ser736Thr
NM_004836.6:c.2207G>C	NP_004827.4:p.Ser736Thr
NR_110236.1:n.1413C>G
XM_005264649.3:c.1523G>C	XP_005264706.1:p.Ser508Thr
XR_939749.1:n.2486G>C
XM_017005376.2:c.1523G>C	XP_016860865.1:p.Ser508Thr
NM_004836.7:c.2207G>C MANE Select	NP_004827.4:p.Ser736Thr
NM_001313915.2:c.1754G>C	NP_001300844.1:p.Ser585Thr