Canonical Allele Identifier: CA1754799

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs121908570
• ExAC: 2:88890344 C / G
• gnomAD v2: 2-88890344-C-G
• gnomAD v4: 2-88590826-C-G
• MyVariant Identifiers: chr2:g.88890344C>G (hg19) ; chr2:g.88590826C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590826C>G , CM000664.2:g.88590826C>G	GRCh38
NC_000002.11:g.88890344C>G , CM000664.1:g.88890344C>G	GRCh37
NC_000002.10:g.88671459C>G	NCBI36
NG_016424.1:g.41751G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2185G>C
ENST00000682276.1:n.449G>C
ENST00000682892.1:c.541G>C	ENSP00000507214.1:p.Glu181Gln
ENST00000682952.1:n.633G>C
ENST00000684455.1:c.207G>C
ENST00000684642.1:c.391G>C	ENSP00000507355.1:p.Glu131Gln
ENST00000303236.9:c.994G>C MANE Select	ENSP00000307235.3:p.Glu332Gln
ENST00000652099.1:c.1188G>C
ENST00000652736.1:n.870G>C
ENST00000303236.7:c.994G>C	ENSP00000307235.3:p.Glu332Gln
ENST00000415570.1:c.631G>C	ENSP00000412076.1:p.Glu211Gln
ENST00000419748.5:c.541G>C	ENSP00000408325.1:p.Glu181Gln
ENST00000477083.1:n.527G>C
NM_001313915.1:c.541G>C	NP_001300844.1:p.Glu181Gln
NM_004836.5:c.994G>C	NP_004827.4:p.Glu332Gln
NM_004836.6:c.994G>C	NP_004827.4:p.Glu332Gln
XM_005264649.3:c.310G>C	XP_005264706.1:p.Glu104Gln
XR_939749.1:n.1203G>C
XM_017005376.2:c.310G>C	XP_016860865.1:p.Glu104Gln
NM_004836.7:c.994G>C MANE Select	NP_004827.4:p.Glu332Gln
NM_001313915.2:c.541G>C	NP_001300844.1:p.Glu181Gln