Canonical Allele Identifier: CA347589356

Gene: EIF2AK3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88574725G>A , CM000664.2:g.88574725G>A	GRCh38
NC_000002.11:g.88874243G>A , CM000664.1:g.88874243G>A	GRCh37
NC_000002.10:g.88655358G>A	NCBI36
NG_016424.1:g.57852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2586C>T
ENST00000682103.1:c.299C>T
ENST00000682276.1:n.2203C>T
ENST00000682892.1:c.2305C>T	ENSP00000507214.1:p.Gln769Ter
ENST00000682952.1:n.2397C>T
ENST00000684455.1:c.1971C>T
ENST00000684642.1:c.2155C>T	ENSP00000507355.1:p.Gln719Ter
ENST00000684740.1:n.2936C>T
ENST00000303236.9:c.2758C>T MANE Select	ENSP00000307235.3:p.Gln920Ter
ENST00000652099.1:c.2952C>T
ENST00000652736.1:n.2634C>T
ENST00000303236.7:c.2758C>T	ENSP00000307235.3:p.Gln920Ter
ENST00000415570.1:c.2395C>T	ENSP00000412076.1:p.Gln799Ter
ENST00000419748.5:c.2305C>T	ENSP00000408325.1:p.Gln769Ter
ENST00000470706.1:n.401C>T
NM_001313915.1:c.2305C>T	NP_001300844.1:p.Gln769Ter
NM_004836.5:c.2758C>T	NP_004827.4:p.Gln920Ter
NM_004836.6:c.2758C>T	NP_004827.4:p.Gln920Ter
NR_110236.1:n.862G>A
XM_005264649.3:c.2074C>T	XP_005264706.1:p.Gln692Ter
XM_017005376.2:c.2074C>T	XP_016860865.1:p.Gln692Ter
NM_004836.7:c.2758C>T MANE Select	NP_004827.4:p.Gln920Ter
NM_001313915.2:c.2305C>T	NP_001300844.1:p.Gln769Ter