Canonical Allele Identifier: CA427445619

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874853T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575335T>G , CM000664.2:g.88575335T>G	GRCh38
NC_000002.11:g.88874853T>G , CM000664.1:g.88874853T>G	GRCh37
NC_000002.10:g.88655968T>G	NCBI36
NG_016424.1:g.57242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1976A>C
ENST00000682276.1:n.1593A>C
ENST00000682892.1:c.1695A>C	ENSP00000507214.1:p.Pro565=
ENST00000682952.1:n.1787A>C
ENST00000684455.1:c.1361A>C
ENST00000684642.1:c.1545A>C	ENSP00000507355.1:p.Pro515=
ENST00000684740.1:n.2326A>C
ENST00000303236.9:c.2148A>C MANE Select	ENSP00000307235.3:p.Pro716=
ENST00000652099.1:c.2342A>C
ENST00000652736.1:n.2024A>C
ENST00000303236.7:c.2148A>C	ENSP00000307235.3:p.Pro716=
ENST00000415570.1:c.1785A>C	ENSP00000412076.1:p.Pro595=
ENST00000419748.5:c.1695A>C	ENSP00000408325.1:p.Pro565=
ENST00000470706.1:n.48+26A>C
NM_001313915.1:c.1695A>C	NP_001300844.1:p.Pro565=
NM_004836.5:c.2148A>C	NP_004827.4:p.Pro716=
NM_004836.6:c.2148A>C	NP_004827.4:p.Pro716=
NR_110236.1:n.1472T>G
XM_005264649.3:c.1464A>C	XP_005264706.1:p.Pro488=
XR_939749.1:n.2427A>C
XM_017005376.2:c.1464A>C	XP_016860865.1:p.Pro488=
NM_004836.7:c.2148A>C MANE Select	NP_004827.4:p.Pro716=
NM_001313915.2:c.1695A>C	NP_001300844.1:p.Pro565=