Canonical Allele Identifier: CA347592962

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1466276004
• gnomAD v2: 2-88874924-G-T
• gnomAD v4: 2-88575406-G-T
• MyVariant Identifiers: chr2:g.88874924G>T (hg19) ; chr2:g.88575406G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575406G>T , CM000664.2:g.88575406G>T	GRCh38
NC_000002.11:g.88874924G>T , CM000664.1:g.88874924G>T	GRCh37
NC_000002.10:g.88656039G>T	NCBI36
NG_016424.1:g.57171C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1905C>A
ENST00000682276.1:n.1522C>A
ENST00000682892.1:c.1624C>A	ENSP00000507214.1:p.Pro542Thr
ENST00000682952.1:n.1716C>A
ENST00000684455.1:c.1290C>A
ENST00000684642.1:c.1474C>A	ENSP00000507355.1:p.Pro492Thr
ENST00000684740.1:n.2255C>A
ENST00000303236.9:c.2077C>A MANE Select	ENSP00000307235.3:p.Pro693Thr
ENST00000652099.1:c.2271C>A
ENST00000652736.1:n.1953C>A
ENST00000303236.7:c.2077C>A	ENSP00000307235.3:p.Pro693Thr
ENST00000415570.1:c.1714C>A	ENSP00000412076.1:p.Pro572Thr
ENST00000419748.5:c.1624C>A	ENSP00000408325.1:p.Pro542Thr
ENST00000470706.1:n.3C>A
ENST00000478003.1:n.643C>A
NM_001313915.1:c.1624C>A	NP_001300844.1:p.Pro542Thr
NM_004836.5:c.2077C>A	NP_004827.4:p.Pro693Thr
NM_004836.6:c.2077C>A	NP_004827.4:p.Pro693Thr
NR_110236.1:n.1543G>T
XM_005264649.3:c.1393C>A	XP_005264706.1:p.Pro465Thr
XR_939749.1:n.2356C>A
XM_017005376.2:c.1393C>A	XP_016860865.1:p.Pro465Thr
NM_004836.7:c.2077C>A MANE Select	NP_004827.4:p.Pro693Thr
NM_001313915.2:c.1624C>A	NP_001300844.1:p.Pro542Thr