Canonical Allele Identifier: CA427445269

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874700T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575182T>G , CM000664.2:g.88575182T>G	GRCh38
NC_000002.11:g.88874700T>G , CM000664.1:g.88874700T>G	GRCh37
NC_000002.10:g.88655815T>G	NCBI36
NG_016424.1:g.57395A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2129A>C
ENST00000682276.1:n.1746A>C
ENST00000682892.1:c.1848A>C	ENSP00000507214.1:p.Thr616=
ENST00000682952.1:n.1940A>C
ENST00000684455.1:c.1514A>C
ENST00000684642.1:c.1698A>C	ENSP00000507355.1:p.Thr566=
ENST00000684740.1:n.2479A>C
ENST00000303236.9:c.2301A>C MANE Select	ENSP00000307235.3:p.Thr767=
ENST00000652099.1:c.2495A>C
ENST00000652736.1:n.2177A>C
ENST00000303236.7:c.2301A>C	ENSP00000307235.3:p.Thr767=
ENST00000415570.1:c.1938A>C	ENSP00000412076.1:p.Thr646=
ENST00000419748.5:c.1848A>C	ENSP00000408325.1:p.Thr616=
ENST00000470706.1:n.49-105A>C
NM_001313915.1:c.1848A>C	NP_001300844.1:p.Thr616=
NM_004836.5:c.2301A>C	NP_004827.4:p.Thr767=
NM_004836.6:c.2301A>C	NP_004827.4:p.Thr767=
NR_110236.1:n.1319T>G
XM_005264649.3:c.1617A>C	XP_005264706.1:p.Thr539=
XM_017005376.2:c.1617A>C	XP_016860865.1:p.Thr539=
NM_004836.7:c.2301A>C MANE Select	NP_004827.4:p.Thr767=
NM_001313915.2:c.1848A>C	NP_001300844.1:p.Thr616=