Canonical Allele Identifier: CA1754447

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1624494
• ClinVar RCV Id: RCV002114055
• dbSNP Id: rs748587261
• ExAC: 2:88874535 C / T
• gnomAD v2: 2-88874535-C-T
• gnomAD v3: 2-88575017-C-T
• gnomAD v4: 2-88575017-C-T
• MyVariant Identifiers: chr2:g.88874535C>T (hg19) ; chr2:g.88575017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575017C>T , CM000664.2:g.88575017C>T	GRCh38
NC_000002.11:g.88874535C>T , CM000664.1:g.88874535C>T	GRCh37
NC_000002.10:g.88655650C>T	NCBI36
NG_016424.1:g.57560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2294G>A
ENST00000682103.1:c.7G>A
ENST00000682276.1:n.1911G>A
ENST00000682892.1:c.2013G>A	ENSP00000507214.1:p.Pro671=
ENST00000682952.1:n.2105G>A
ENST00000684455.1:c.1679G>A
ENST00000684642.1:c.1863G>A	ENSP00000507355.1:p.Pro621=
ENST00000684740.1:n.2644G>A
ENST00000303236.9:c.2466G>A MANE Select	ENSP00000307235.3:p.Pro822=
ENST00000652099.1:c.2660G>A
ENST00000652736.1:n.2342G>A
ENST00000303236.7:c.2466G>A	ENSP00000307235.3:p.Pro822=
ENST00000415570.1:c.2103G>A	ENSP00000412076.1:p.Pro701=
ENST00000419748.5:c.2013G>A	ENSP00000408325.1:p.Pro671=
ENST00000470706.1:n.109G>A
NM_001313915.1:c.2013G>A	NP_001300844.1:p.Pro671=
NM_004836.5:c.2466G>A	NP_004827.4:p.Pro822=
NM_004836.6:c.2466G>A	NP_004827.4:p.Pro822=
NR_110236.1:n.1154C>T
XM_005264649.3:c.1782G>A	XP_005264706.1:p.Pro594=
XM_017005376.2:c.1782G>A	XP_016860865.1:p.Pro594=
NM_004836.7:c.2466G>A MANE Select	NP_004827.4:p.Pro822=
NM_001313915.2:c.2013G>A	NP_001300844.1:p.Pro671=