Canonical Allele Identifier: CA347592456

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874796C>G (hg19) ; chr2:g.88575278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575278C>G , CM000664.2:g.88575278C>G	GRCh38
NC_000002.11:g.88874796C>G , CM000664.1:g.88874796C>G	GRCh37
NC_000002.10:g.88655911C>G	NCBI36
NG_016424.1:g.57299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2033G>C
ENST00000682276.1:n.1650G>C
ENST00000682892.1:c.1752G>C	ENSP00000507214.1:p.Glu584Asp
ENST00000682952.1:n.1844G>C
ENST00000684455.1:c.1418G>C
ENST00000684642.1:c.1602G>C	ENSP00000507355.1:p.Glu534Asp
ENST00000684740.1:n.2383G>C
ENST00000303236.9:c.2205G>C MANE Select	ENSP00000307235.3:p.Glu735Asp
ENST00000652099.1:c.2399G>C
ENST00000652736.1:n.2081G>C
ENST00000303236.7:c.2205G>C	ENSP00000307235.3:p.Glu735Asp
ENST00000415570.1:c.1842G>C	ENSP00000412076.1:p.Glu614Asp
ENST00000419748.5:c.1752G>C	ENSP00000408325.1:p.Glu584Asp
ENST00000470706.1:n.48+83G>C
NM_001313915.1:c.1752G>C	NP_001300844.1:p.Glu584Asp
NM_004836.5:c.2205G>C	NP_004827.4:p.Glu735Asp
NM_004836.6:c.2205G>C	NP_004827.4:p.Glu735Asp
NR_110236.1:n.1415C>G
XM_005264649.3:c.1521G>C	XP_005264706.1:p.Glu507Asp
XR_939749.1:n.2484G>C
XM_017005376.2:c.1521G>C	XP_016860865.1:p.Glu507Asp
NM_004836.7:c.2205G>C MANE Select	NP_004827.4:p.Glu735Asp
NM_001313915.2:c.1752G>C	NP_001300844.1:p.Glu584Asp