Canonical Allele Identifier: CA1268208168

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575246A= , CM000664.2:g.88575246A=	GRCh38
NC_000002.11:g.88874764A= , CM000664.1:g.88874764A=	GRCh37
NC_000002.10:g.88655879A=	NCBI36
NG_016424.1:g.57331T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2065T=
ENST00000682276.1:n.1682T=
ENST00000682892.1:c.1784T=	ENSP00000507214.1:p.Met595=
ENST00000682952.1:n.1876T=
ENST00000684455.1:c.1450T=
ENST00000684642.1:c.1634T=	ENSP00000507355.1:p.Met545=
ENST00000684740.1:n.2415T=
ENST00000303236.9:c.2237T= MANE Select	ENSP00000307235.3:p.Met746=
ENST00000652099.1:c.2431T=
ENST00000652736.1:n.2113T=
ENST00000303236.7:c.2237T=	ENSP00000307235.3:p.Met746=
ENST00000415570.1:c.1874T=	ENSP00000412076.1:p.Met625=
ENST00000419748.5:c.1784T=	ENSP00000408325.1:p.Met595=
ENST00000470706.1:n.48+115T=
NM_001313915.1:c.1784T=	NP_001300844.1:p.Met595=
NM_004836.5:c.2237T=	NP_004827.4:p.Met746=
NM_004836.6:c.2237T=	NP_004827.4:p.Met746=
NR_110236.1:n.1383A=
XM_005264649.3:c.1553T=	XP_005264706.1:p.Met518=
XM_017005376.2:c.1553T=	XP_016860865.1:p.Met518=
NM_004836.7:c.2237T= MANE Select	NP_004827.4:p.Met746=
NM_001313915.2:c.1784T=	NP_001300844.1:p.Met595=