Canonical Allele Identifier: CA347591274

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874538C>G (hg19) ; chr2:g.88575020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575020C>G , CM000664.2:g.88575020C>G	GRCh38
NC_000002.11:g.88874538C>G , CM000664.1:g.88874538C>G	GRCh37
NC_000002.10:g.88655653C>G	NCBI36
NG_016424.1:g.57557G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2291G>C
ENST00000682103.1:c.4G>C
ENST00000682276.1:n.1908G>C
ENST00000682892.1:c.2010G>C	ENSP00000507214.1:p.Glu670Asp
ENST00000682952.1:n.2102G>C
ENST00000684455.1:c.1676G>C
ENST00000684642.1:c.1860G>C	ENSP00000507355.1:p.Glu620Asp
ENST00000684740.1:n.2641G>C
ENST00000303236.9:c.2463G>C MANE Select	ENSP00000307235.3:p.Glu821Asp
ENST00000652099.1:c.2657G>C
ENST00000652736.1:n.2339G>C
ENST00000303236.7:c.2463G>C	ENSP00000307235.3:p.Glu821Asp
ENST00000415570.1:c.2100G>C	ENSP00000412076.1:p.Glu700Asp
ENST00000419748.5:c.2010G>C	ENSP00000408325.1:p.Glu670Asp
ENST00000470706.1:n.106G>C
NM_001313915.1:c.2010G>C	NP_001300844.1:p.Glu670Asp
NM_004836.5:c.2463G>C	NP_004827.4:p.Glu821Asp
NM_004836.6:c.2463G>C	NP_004827.4:p.Glu821Asp
NR_110236.1:n.1157C>G
XM_005264649.3:c.1779G>C	XP_005264706.1:p.Glu593Asp
XM_017005376.2:c.1779G>C	XP_016860865.1:p.Glu593Asp
NM_004836.7:c.2463G>C MANE Select	NP_004827.4:p.Glu821Asp
NM_001313915.2:c.2010G>C	NP_001300844.1:p.Glu670Asp