Canonical Allele Identifier: CA347589607

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88574776G>A , CM000664.2:g.88574776G>A	GRCh38
NC_000002.11:g.88874294G>A , CM000664.1:g.88874294G>A	GRCh37
NC_000002.10:g.88655409G>A	NCBI36
NG_016424.1:g.57801C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.2707C>T MANE Select	NP_004827.4:p.Arg903Ter
ENST00000303236.9:c.2707C>T MANE Select	ENSP00000307235.3:p.Arg903Ter
NM_001313915.1:c.2254C>T	NP_001300844.1:p.Arg752Ter
NM_001313915.2:c.2254C>T	NP_001300844.1:p.Arg752Ter
NM_004836.5:c.2707C>T	NP_004827.4:p.Arg903Ter
NM_004836.6:c.2707C>T	NP_004827.4:p.Arg903Ter
NR_110236.1:n.913G>A
ENST00000303236.7:c.2707C>T	ENSP00000307235.3:p.Arg903Ter
ENST00000415570.1:c.2344C>T	ENSP00000412076.1:p.Arg782Ter
ENST00000419748.5:c.2254C>T	ENSP00000408325.1:p.Arg752Ter
ENST00000470706.1:n.350C>T
ENST00000478003.2:n.2535C>T
ENST00000652099.1:c.2901C>T
ENST00000652736.1:n.2583C>T
ENST00000682103.1:c.248C>T
ENST00000682276.1:n.2152C>T
ENST00000682892.1:c.2254C>T	ENSP00000507214.1:p.Arg752Ter
ENST00000682952.1:n.2346C>T
ENST00000684455.1:c.1920C>T
ENST00000684642.1:c.2104C>T	ENSP00000507355.1:p.Arg702Ter
ENST00000684740.1:n.2885C>T
XM_005264649.3:c.2023C>T	XP_005264706.1:p.Arg675Ter
XM_017005376.2:c.2023C>T	XP_016860865.1:p.Arg675Ter