Canonical Allele Identifier: CA347592794

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575355C>A , CM000664.2:g.88575355C>A	GRCh38
NC_000002.11:g.88874873C>A , CM000664.1:g.88874873C>A	GRCh37
NC_000002.10:g.88655988C>A	NCBI36
NG_016424.1:g.57222G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.2128G>T MANE Select	NP_004827.4:p.Glu710Ter
ENST00000303236.9:c.2128G>T MANE Select	ENSP00000307235.3:p.Glu710Ter
NM_001313915.1:c.1675G>T	NP_001300844.1:p.Glu559Ter
NM_001313915.2:c.1675G>T	NP_001300844.1:p.Glu559Ter
NM_004836.5:c.2128G>T	NP_004827.4:p.Glu710Ter
NM_004836.6:c.2128G>T	NP_004827.4:p.Glu710Ter
NR_110236.1:n.1492C>A
ENST00000303236.7:c.2128G>T	ENSP00000307235.3:p.Glu710Ter
ENST00000415570.1:c.1765G>T	ENSP00000412076.1:p.Glu589Ter
ENST00000419748.5:c.1675G>T	ENSP00000408325.1:p.Glu559Ter
ENST00000470706.1:n.48+6G>T
ENST00000478003.2:n.1956G>T
ENST00000652099.1:c.2322G>T
ENST00000652736.1:n.2004G>T
ENST00000682276.1:n.1573G>T
ENST00000682892.1:c.1675G>T	ENSP00000507214.1:p.Glu559Ter
ENST00000682952.1:n.1767G>T
ENST00000684455.1:c.1341G>T
ENST00000684642.1:c.1525G>T	ENSP00000507355.1:p.Glu509Ter
ENST00000684740.1:n.2306G>T
XM_005264649.3:c.1444G>T	XP_005264706.1:p.Glu482Ter
XM_017005376.2:c.1444G>T	XP_016860865.1:p.Glu482Ter
XR_939749.1:n.2407G>T