Canonical Allele Identifier: CA347593036

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575440-G-C
• MyVariant Identifiers: chr2:g.88874958G>C (hg19) ; chr2:g.88575440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575440G>C , CM000664.2:g.88575440G>C	GRCh38
NC_000002.11:g.88874958G>C , CM000664.1:g.88874958G>C	GRCh37
NC_000002.10:g.88656073G>C	NCBI36
NG_016424.1:g.57137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1871C>G
ENST00000682276.1:n.1488C>G
ENST00000682892.1:c.1590C>G	ENSP00000507214.1:p.Asp530Glu
ENST00000682952.1:n.1682C>G
ENST00000684455.1:c.1256C>G
ENST00000684642.1:c.1440C>G	ENSP00000507355.1:p.Asp480Glu
ENST00000684740.1:n.2221C>G
ENST00000303236.9:c.2043C>G MANE Select	ENSP00000307235.3:p.Asp681Glu
ENST00000652099.1:c.2237C>G
ENST00000652736.1:n.1919C>G
ENST00000303236.7:c.2043C>G	ENSP00000307235.3:p.Asp681Glu
ENST00000415570.1:c.1680C>G	ENSP00000412076.1:p.Asp560Glu
ENST00000419748.5:c.1590C>G	ENSP00000408325.1:p.Asp530Glu
ENST00000478003.1:n.609C>G
NM_001313915.1:c.1590C>G	NP_001300844.1:p.Asp530Glu
NM_004836.5:c.2043C>G	NP_004827.4:p.Asp681Glu
NM_004836.6:c.2043C>G	NP_004827.4:p.Asp681Glu
NR_110236.1:n.1577G>C
XM_005264649.3:c.1359C>G	XP_005264706.1:p.Asp453Glu
XR_939749.1:n.2322C>G
XM_017005376.2:c.1359C>G	XP_016860865.1:p.Asp453Glu
NM_004836.7:c.2043C>G MANE Select	NP_004827.4:p.Asp681Glu
NM_001313915.2:c.1590C>G	NP_001300844.1:p.Asp530Glu