Canonical Allele Identifier: CA347592961

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874924G>A (hg19) ; chr2:g.88575406G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1905C>T
ENST00000682276.1:n.1522C>T
ENST00000682892.1:c.1624C>T	ENSP00000507214.1:p.Pro542Ser
ENST00000682952.1:n.1716C>T
ENST00000684455.1:c.1290C>T
ENST00000684642.1:c.1474C>T	ENSP00000507355.1:p.Pro492Ser
ENST00000684740.1:n.2255C>T
ENST00000303236.9:c.2077C>T MANE Select	ENSP00000307235.3:p.Pro693Ser
ENST00000652099.1:c.2271C>T
ENST00000652736.1:n.1953C>T
ENST00000303236.7:c.2077C>T	ENSP00000307235.3:p.Pro693Ser
ENST00000415570.1:c.1714C>T	ENSP00000412076.1:p.Pro572Ser
ENST00000419748.5:c.1624C>T	ENSP00000408325.1:p.Pro542Ser
ENST00000470706.1:n.3C>T
ENST00000478003.1:n.643C>T
NM_001313915.1:c.1624C>T	NP_001300844.1:p.Pro542Ser
NM_004836.5:c.2077C>T	NP_004827.4:p.Pro693Ser
NM_004836.6:c.2077C>T	NP_004827.4:p.Pro693Ser
NR_110236.1:n.1543G>A
XM_005264649.3:c.1393C>T	XP_005264706.1:p.Pro465Ser
XR_939749.1:n.2356C>T
XM_017005376.2:c.1393C>T	XP_016860865.1:p.Pro465Ser
NM_004836.7:c.2077C>T MANE Select	NP_004827.4:p.Pro693Ser
NM_001313915.2:c.1624C>T	NP_001300844.1:p.Pro542Ser