Canonical Allele Identifier: CA117826

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 5878
• ClinVar RCV Id: RCV000006236
• dbSNP Id: rs121908570
• gnomAD v4: 2-88590826-C-A
• MyVariant Identifiers: chr2:g.88890344C>A (hg19) ; chr2:g.88590826C>A (hg38)
• PubMed: PMID:16813601

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2185G>T
ENST00000682276.1:n.449G>T
ENST00000682892.1:c.541G>T	ENSP00000507214.1:p.Glu181Ter
ENST00000682952.1:n.633G>T
ENST00000684455.1:c.207G>T
ENST00000684642.1:c.391G>T	ENSP00000507355.1:p.Glu131Ter
ENST00000303236.9:c.994G>T MANE Select	ENSP00000307235.3:p.Glu332Ter
ENST00000652099.1:c.1188G>T
ENST00000652736.1:n.870G>T
ENST00000303236.7:c.994G>T	ENSP00000307235.3:p.Glu332Ter
ENST00000415570.1:c.631G>T	ENSP00000412076.1:p.Glu211Ter
ENST00000419748.5:c.541G>T	ENSP00000408325.1:p.Glu181Ter
ENST00000477083.1:n.527G>T
NM_001313915.1:c.541G>T	NP_001300844.1:p.Glu181Ter
NM_004836.5:c.994G>T	NP_004827.4:p.Glu332Ter
NM_004836.6:c.994G>T	NP_004827.4:p.Glu332Ter
XM_005264649.3:c.310G>T	XP_005264706.1:p.Glu104Ter
XR_939749.1:n.1203G>T
XM_017005376.2:c.310G>T	XP_016860865.1:p.Glu104Ter
NM_004836.7:c.994G>T MANE Select	NP_004827.4:p.Glu332Ter
NM_001313915.2:c.541G>T	NP_001300844.1:p.Glu181Ter