Canonical Allele Identifier: CA347592276

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575239-A-T
• MyVariant Identifiers: chr2:g.88874757A>T (hg19) ; chr2:g.88575239A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575239A>T , CM000664.2:g.88575239A>T	GRCh38
NC_000002.11:g.88874757A>T , CM000664.1:g.88874757A>T	GRCh37
NC_000002.10:g.88655872A>T	NCBI36
NG_016424.1:g.57338T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2072T>A
ENST00000682276.1:n.1689T>A
ENST00000682892.1:c.1791T>A	ENSP00000507214.1:p.His597Gln
ENST00000682952.1:n.1883T>A
ENST00000684455.1:c.1457T>A
ENST00000684642.1:c.1641T>A	ENSP00000507355.1:p.His547Gln
ENST00000684740.1:n.2422T>A
ENST00000303236.9:c.2244T>A MANE Select	ENSP00000307235.3:p.His748Gln
ENST00000652099.1:c.2438T>A
ENST00000652736.1:n.2120T>A
ENST00000303236.7:c.2244T>A	ENSP00000307235.3:p.His748Gln
ENST00000415570.1:c.1881T>A	ENSP00000412076.1:p.His627Gln
ENST00000419748.5:c.1791T>A	ENSP00000408325.1:p.His597Gln
ENST00000470706.1:n.48+122T>A
NM_001313915.1:c.1791T>A	NP_001300844.1:p.His597Gln
NM_004836.5:c.2244T>A	NP_004827.4:p.His748Gln
NM_004836.6:c.2244T>A	NP_004827.4:p.His748Gln
NR_110236.1:n.1376A>T
XM_005264649.3:c.1560T>A	XP_005264706.1:p.His520Gln
XM_017005376.2:c.1560T>A	XP_016860865.1:p.His520Gln
NM_004836.7:c.2244T>A MANE Select	NP_004827.4:p.His748Gln
NM_001313915.2:c.1791T>A	NP_001300844.1:p.His597Gln