Canonical Allele Identifier: CA427173240

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874961T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575443T>G , CM000664.2:g.88575443T>G	GRCh38
NC_000002.11:g.88874961T>G , CM000664.1:g.88874961T>G	GRCh37
NC_000002.10:g.88656076T>G	NCBI36
NG_016424.1:g.57134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1868A>C
ENST00000682276.1:n.1485A>C
ENST00000682892.1:c.1587A>C	ENSP00000507214.1:p.Thr529=
ENST00000682952.1:n.1679A>C
ENST00000684455.1:c.1253A>C
ENST00000684642.1:c.1437A>C	ENSP00000507355.1:p.Thr479=
ENST00000684740.1:n.2218A>C
ENST00000303236.9:c.2040A>C MANE Select	ENSP00000307235.3:p.Thr680=
ENST00000652099.1:c.2234A>C
ENST00000652736.1:n.1916A>C
ENST00000303236.7:c.2040A>C	ENSP00000307235.3:p.Thr680=
ENST00000415570.1:c.1677A>C	ENSP00000412076.1:p.Thr559=
ENST00000419748.5:c.1587A>C	ENSP00000408325.1:p.Thr529=
ENST00000478003.1:n.606A>C
NM_001313915.1:c.1587A>C	NP_001300844.1:p.Thr529=
NM_004836.5:c.2040A>C	NP_004827.4:p.Thr680=
NM_004836.6:c.2040A>C	NP_004827.4:p.Thr680=
NR_110236.1:n.1580T>G
XM_005264649.3:c.1356A>C	XP_005264706.1:p.Thr452=
XR_939749.1:n.2319A>C
XM_017005376.2:c.1356A>C	XP_016860865.1:p.Thr452=
NM_004836.7:c.2040A>C MANE Select	NP_004827.4:p.Thr680=
NM_001313915.2:c.1587A>C	NP_001300844.1:p.Thr529=