Canonical Allele Identifier: CA427445307

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs777171158
• gnomAD v2: 2-88874715-C-T
• gnomAD v4: 2-88575197-C-T
• MyVariant Identifiers: chr2:g.88874715C>T (hg19) ; chr2:g.88575197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575197C>T , CM000664.2:g.88575197C>T	GRCh38
NC_000002.11:g.88874715C>T , CM000664.1:g.88874715C>T	GRCh37
NC_000002.10:g.88655830C>T	NCBI36
NG_016424.1:g.57380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2114G>A
ENST00000682276.1:n.1731G>A
ENST00000682892.1:c.1833G>A	ENSP00000507214.1:p.Gln611=
ENST00000682952.1:n.1925G>A
ENST00000684455.1:c.1499G>A
ENST00000684642.1:c.1683G>A	ENSP00000507355.1:p.Gln561=
ENST00000684740.1:n.2464G>A
ENST00000303236.9:c.2286G>A MANE Select	ENSP00000307235.3:p.Gln762=
ENST00000652099.1:c.2480G>A
ENST00000652736.1:n.2162G>A
ENST00000303236.7:c.2286G>A	ENSP00000307235.3:p.Gln762=
ENST00000415570.1:c.1923G>A	ENSP00000412076.1:p.Gln641=
ENST00000419748.5:c.1833G>A	ENSP00000408325.1:p.Gln611=
ENST00000470706.1:n.49-120G>A
NM_001313915.1:c.1833G>A	NP_001300844.1:p.Gln611=
NM_004836.5:c.2286G>A	NP_004827.4:p.Gln762=
NM_004836.6:c.2286G>A	NP_004827.4:p.Gln762=
NR_110236.1:n.1334C>T
XM_005264649.3:c.1602G>A	XP_005264706.1:p.Gln534=
XM_017005376.2:c.1602G>A	XP_016860865.1:p.Gln534=
NM_004836.7:c.2286G>A MANE Select	NP_004827.4:p.Gln762=
NM_001313915.2:c.1833G>A	NP_001300844.1:p.Gln611=