Canonical Allele Identifier: CA347592167

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674424943
• gnomAD v3: 2-88575219-A-G
• gnomAD v4: 2-88575219-A-G
• MyVariant Identifiers: chr2:g.88874737A>G (hg19) ; chr2:g.88575219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575219A>G , CM000664.2:g.88575219A>G	GRCh38
NC_000002.11:g.88874737A>G , CM000664.1:g.88874737A>G	GRCh37
NC_000002.10:g.88655852A>G	NCBI36
NG_016424.1:g.57358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2092T>C
ENST00000682276.1:n.1709T>C
ENST00000682892.1:c.1811T>C	ENSP00000507214.1:p.Val604Ala
ENST00000682952.1:n.1903T>C
ENST00000684455.1:c.1477T>C
ENST00000684642.1:c.1661T>C	ENSP00000507355.1:p.Val554Ala
ENST00000684740.1:n.2442T>C
ENST00000303236.9:c.2264T>C MANE Select	ENSP00000307235.3:p.Val755Ala
ENST00000652099.1:c.2458T>C
ENST00000652736.1:n.2140T>C
ENST00000303236.7:c.2264T>C	ENSP00000307235.3:p.Val755Ala
ENST00000415570.1:c.1901T>C	ENSP00000412076.1:p.Val634Ala
ENST00000419748.5:c.1811T>C	ENSP00000408325.1:p.Val604Ala
ENST00000470706.1:n.49-142T>C
NM_001313915.1:c.1811T>C	NP_001300844.1:p.Val604Ala
NM_004836.5:c.2264T>C	NP_004827.4:p.Val755Ala
NM_004836.6:c.2264T>C	NP_004827.4:p.Val755Ala
NR_110236.1:n.1356A>G
XM_005264649.3:c.1580T>C	XP_005264706.1:p.Val527Ala
XM_017005376.2:c.1580T>C	XP_016860865.1:p.Val527Ala
NM_004836.7:c.2264T>C MANE Select	NP_004827.4:p.Val755Ala
NM_001313915.2:c.1811T>C	NP_001300844.1:p.Val604Ala