Canonical Allele Identifier: CA427173204

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874898A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575380A>G , CM000664.2:g.88575380A>G	GRCh38
NC_000002.11:g.88874898A>G , CM000664.1:g.88874898A>G	GRCh37
NC_000002.10:g.88656013A>G	NCBI36
NG_016424.1:g.57197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1931T>C
ENST00000682276.1:n.1548T>C
ENST00000682892.1:c.1650T>C	ENSP00000507214.1:p.Asp550=
ENST00000682952.1:n.1742T>C
ENST00000684455.1:c.1316T>C
ENST00000684642.1:c.1500T>C	ENSP00000507355.1:p.Asp500=
ENST00000684740.1:n.2281T>C
ENST00000303236.9:c.2103T>C MANE Select	ENSP00000307235.3:p.Asp701=
ENST00000652099.1:c.2297T>C
ENST00000652736.1:n.1979T>C
ENST00000303236.7:c.2103T>C	ENSP00000307235.3:p.Asp701=
ENST00000415570.1:c.1740T>C	ENSP00000412076.1:p.Asp580=
ENST00000419748.5:c.1650T>C	ENSP00000408325.1:p.Asp550=
ENST00000470706.1:n.29T>C
NM_001313915.1:c.1650T>C	NP_001300844.1:p.Asp550=
NM_004836.5:c.2103T>C	NP_004827.4:p.Asp701=
NM_004836.6:c.2103T>C	NP_004827.4:p.Asp701=
NR_110236.1:n.1517A>G
XM_005264649.3:c.1419T>C	XP_005264706.1:p.Asp473=
XR_939749.1:n.2382T>C
XM_017005376.2:c.1419T>C	XP_016860865.1:p.Asp473=
NM_004836.7:c.2103T>C MANE Select	NP_004827.4:p.Asp701=
NM_001313915.2:c.1650T>C	NP_001300844.1:p.Asp550=