Canonical Allele Identifier: CA427445445

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575032-G-A
• MyVariant Identifiers: chr2:g.88874550G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575032G>A , CM000664.2:g.88575032G>A	GRCh38
NC_000002.11:g.88874550G>A , CM000664.1:g.88874550G>A	GRCh37
NC_000002.10:g.88655665G>A	NCBI36
NG_016424.1:g.57545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2279C>T
ENST00000682276.1:n.1896C>T
ENST00000682892.1:c.1998C>T	ENSP00000507214.1:p.Ser666=
ENST00000682952.1:n.2090C>T
ENST00000684455.1:c.1664C>T
ENST00000684642.1:c.1848C>T	ENSP00000507355.1:p.Ser616=
ENST00000684740.1:n.2629C>T
ENST00000303236.9:c.2451C>T MANE Select	ENSP00000307235.3:p.Ser817=
ENST00000652099.1:c.2645C>T
ENST00000652736.1:n.2327C>T
ENST00000303236.7:c.2451C>T	ENSP00000307235.3:p.Ser817=
ENST00000415570.1:c.2088C>T	ENSP00000412076.1:p.Ser696=
ENST00000419748.5:c.1998C>T	ENSP00000408325.1:p.Ser666=
ENST00000470706.1:n.94C>T
NM_001313915.1:c.1998C>T	NP_001300844.1:p.Ser666=
NM_004836.5:c.2451C>T	NP_004827.4:p.Ser817=
NM_004836.6:c.2451C>T	NP_004827.4:p.Ser817=
NR_110236.1:n.1169G>A
XM_005264649.3:c.1767C>T	XP_005264706.1:p.Ser589=
XM_017005376.2:c.1767C>T	XP_016860865.1:p.Ser589=
NM_004836.7:c.2451C>T MANE Select	NP_004827.4:p.Ser817=
NM_001313915.2:c.1998C>T	NP_001300844.1:p.Ser666=