Canonical Allele Identifier: CA347592972

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1465588512
• gnomAD v2: 2-88874929-T-C
• gnomAD v4: 2-88575411-T-C
• MyVariant Identifiers: chr2:g.88874929T>C (hg19) ; chr2:g.88575411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575411T>C , CM000664.2:g.88575411T>C	GRCh38
NC_000002.11:g.88874929T>C , CM000664.1:g.88874929T>C	GRCh37
NC_000002.10:g.88656044T>C	NCBI36
NG_016424.1:g.57166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1900A>G
ENST00000682276.1:n.1517A>G
ENST00000682892.1:c.1619A>G	ENSP00000507214.1:p.Asp540Gly
ENST00000682952.1:n.1711A>G
ENST00000684455.1:c.1285A>G
ENST00000684642.1:c.1469A>G	ENSP00000507355.1:p.Asp490Gly
ENST00000684740.1:n.2250A>G
ENST00000303236.9:c.2072A>G MANE Select	ENSP00000307235.3:p.Asp691Gly
ENST00000652099.1:c.2266A>G
ENST00000652736.1:n.1948A>G
ENST00000303236.7:c.2072A>G	ENSP00000307235.3:p.Asp691Gly
ENST00000415570.1:c.1709A>G	ENSP00000412076.1:p.Asp570Gly
ENST00000419748.5:c.1619A>G	ENSP00000408325.1:p.Asp540Gly
ENST00000478003.1:n.638A>G
NM_001313915.1:c.1619A>G	NP_001300844.1:p.Asp540Gly
NM_004836.5:c.2072A>G	NP_004827.4:p.Asp691Gly
NM_004836.6:c.2072A>G	NP_004827.4:p.Asp691Gly
NR_110236.1:n.1548T>C
XM_005264649.3:c.1388A>G	XP_005264706.1:p.Asp463Gly
XR_939749.1:n.2351A>G
XM_017005376.2:c.1388A>G	XP_016860865.1:p.Asp463Gly
NM_004836.7:c.2072A>G MANE Select	NP_004827.4:p.Asp691Gly
NM_001313915.2:c.1619A>G	NP_001300844.1:p.Asp540Gly