Canonical Allele Identifier: CA427445397

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874535C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575017C>G , CM000664.2:g.88575017C>G	GRCh38
NC_000002.11:g.88874535C>G , CM000664.1:g.88874535C>G	GRCh37
NC_000002.10:g.88655650C>G	NCBI36
NG_016424.1:g.57560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2294G>C
ENST00000682103.1:c.7G>C
ENST00000682276.1:n.1911G>C
ENST00000682892.1:c.2013G>C	ENSP00000507214.1:p.Pro671=
ENST00000682952.1:n.2105G>C
ENST00000684455.1:c.1679G>C
ENST00000684642.1:c.1863G>C	ENSP00000507355.1:p.Pro621=
ENST00000684740.1:n.2644G>C
ENST00000303236.9:c.2466G>C MANE Select	ENSP00000307235.3:p.Pro822=
ENST00000652099.1:c.2660G>C
ENST00000652736.1:n.2342G>C
ENST00000303236.7:c.2466G>C	ENSP00000307235.3:p.Pro822=
ENST00000415570.1:c.2103G>C	ENSP00000412076.1:p.Pro701=
ENST00000419748.5:c.2013G>C	ENSP00000408325.1:p.Pro671=
ENST00000470706.1:n.109G>C
NM_001313915.1:c.2013G>C	NP_001300844.1:p.Pro671=
NM_004836.5:c.2466G>C	NP_004827.4:p.Pro822=
NM_004836.6:c.2466G>C	NP_004827.4:p.Pro822=
NR_110236.1:n.1154C>G
XM_005264649.3:c.1782G>C	XP_005264706.1:p.Pro594=
XM_017005376.2:c.1782G>C	XP_016860865.1:p.Pro594=
NM_004836.7:c.2466G>C MANE Select	NP_004827.4:p.Pro822=
NM_001313915.2:c.2013G>C	NP_001300844.1:p.Pro671=