Canonical Allele Identifier: CA347595742

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs121908570
• gnomAD v4: 2-88590826-C-T
• COSMIC: COSM722928 ; COSM1647354
• MyVariant Identifiers: chr2:g.88890344C>T (hg19) ; chr2:g.88590826C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2185G>A
ENST00000682276.1:n.449G>A
ENST00000682892.1:c.541G>A	ENSP00000507214.1:p.Glu181Lys
ENST00000682952.1:n.633G>A
ENST00000684455.1:c.207G>A
ENST00000684642.1:c.391G>A	ENSP00000507355.1:p.Glu131Lys
ENST00000303236.9:c.994G>A MANE Select	ENSP00000307235.3:p.Glu332Lys
ENST00000652099.1:c.1188G>A
ENST00000652736.1:n.870G>A
ENST00000303236.7:c.994G>A	ENSP00000307235.3:p.Glu332Lys
ENST00000415570.1:c.631G>A	ENSP00000412076.1:p.Glu211Lys
ENST00000419748.5:c.541G>A	ENSP00000408325.1:p.Glu181Lys
ENST00000477083.1:n.527G>A
NM_001313915.1:c.541G>A	NP_001300844.1:p.Glu181Lys
NM_004836.5:c.994G>A	NP_004827.4:p.Glu332Lys
NM_004836.6:c.994G>A	NP_004827.4:p.Glu332Lys
XM_005264649.3:c.310G>A	XP_005264706.1:p.Glu104Lys
XR_939749.1:n.1203G>A
XM_017005376.2:c.310G>A	XP_016860865.1:p.Glu104Lys
NM_004836.7:c.994G>A MANE Select	NP_004827.4:p.Glu332Lys
NM_001313915.2:c.541G>A	NP_001300844.1:p.Glu181Lys