Canonical Allele Identifier: CA347592965

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575408-G-T
• MyVariant Identifiers: chr2:g.88874926G>T (hg19) ; chr2:g.88575408G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575408G>T , CM000664.2:g.88575408G>T	GRCh38
NC_000002.11:g.88874926G>T , CM000664.1:g.88874926G>T	GRCh37
NC_000002.10:g.88656041G>T	NCBI36
NG_016424.1:g.57169C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1903C>A
ENST00000682276.1:n.1520C>A
ENST00000682892.1:c.1622C>A	ENSP00000507214.1:p.Ala541Glu
ENST00000682952.1:n.1714C>A
ENST00000684455.1:c.1288C>A
ENST00000684642.1:c.1472C>A	ENSP00000507355.1:p.Ala491Glu
ENST00000684740.1:n.2253C>A
ENST00000303236.9:c.2075C>A MANE Select	ENSP00000307235.3:p.Ala692Glu
ENST00000652099.1:c.2269C>A
ENST00000652736.1:n.1951C>A
ENST00000303236.7:c.2075C>A	ENSP00000307235.3:p.Ala692Glu
ENST00000415570.1:c.1712C>A	ENSP00000412076.1:p.Ala571Glu
ENST00000419748.5:c.1622C>A	ENSP00000408325.1:p.Ala541Glu
ENST00000470706.1:n.1C>A
ENST00000478003.1:n.641C>A
NM_001313915.1:c.1622C>A	NP_001300844.1:p.Ala541Glu
NM_004836.5:c.2075C>A	NP_004827.4:p.Ala692Glu
NM_004836.6:c.2075C>A	NP_004827.4:p.Ala692Glu
NR_110236.1:n.1545G>T
XM_005264649.3:c.1391C>A	XP_005264706.1:p.Ala464Glu
XR_939749.1:n.2354C>A
XM_017005376.2:c.1391C>A	XP_016860865.1:p.Ala464Glu
NM_004836.7:c.2075C>A MANE Select	NP_004827.4:p.Ala692Glu
NM_001313915.2:c.1622C>A	NP_001300844.1:p.Ala541Glu