Canonical Allele Identifier: CA1754458

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs762928284
• ExAC: 2:88874643 T / G
• gnomAD v2: 2-88874643-T-G
• gnomAD v4: 2-88575125-T-G
• MyVariant Identifiers: chr2:g.88874643T>G (hg19) ; chr2:g.88575125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575125T>G , CM000664.2:g.88575125T>G	GRCh38
NC_000002.11:g.88874643T>G , CM000664.1:g.88874643T>G	GRCh37
NC_000002.10:g.88655758T>G	NCBI36
NG_016424.1:g.57452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2186A>C
ENST00000682276.1:n.1803A>C
ENST00000682892.1:c.1905A>C	ENSP00000507214.1:p.Glu635Asp
ENST00000682952.1:n.1997A>C
ENST00000684455.1:c.1571A>C
ENST00000684642.1:c.1755A>C	ENSP00000507355.1:p.Glu585Asp
ENST00000684740.1:n.2536A>C
ENST00000303236.9:c.2358A>C MANE Select	ENSP00000307235.3:p.Glu786Asp
ENST00000652099.1:c.2552A>C
ENST00000652736.1:n.2234A>C
ENST00000303236.7:c.2358A>C	ENSP00000307235.3:p.Glu786Asp
ENST00000415570.1:c.1995A>C	ENSP00000412076.1:p.Glu665Asp
ENST00000419748.5:c.1905A>C	ENSP00000408325.1:p.Glu635Asp
ENST00000470706.1:n.49-48A>C
NM_001313915.1:c.1905A>C	NP_001300844.1:p.Glu635Asp
NM_004836.5:c.2358A>C	NP_004827.4:p.Glu786Asp
NM_004836.6:c.2358A>C	NP_004827.4:p.Glu786Asp
NR_110236.1:n.1262T>G
XM_005264649.3:c.1674A>C	XP_005264706.1:p.Glu558Asp
XM_017005376.2:c.1674A>C	XP_016860865.1:p.Glu558Asp
NM_004836.7:c.2358A>C MANE Select	NP_004827.4:p.Glu786Asp
NM_001313915.2:c.1905A>C	NP_001300844.1:p.Glu635Asp