Canonical Allele Identifier: CA347592999

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874941G>C (hg19) ; chr2:g.88575423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575423G>C , CM000664.2:g.88575423G>C	GRCh38
NC_000002.11:g.88874941G>C , CM000664.1:g.88874941G>C	GRCh37
NC_000002.10:g.88656056G>C	NCBI36
NG_016424.1:g.57154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1888C>G
ENST00000682276.1:n.1505C>G
ENST00000682892.1:c.1607C>G	ENSP00000507214.1:p.Pro536Arg
ENST00000682952.1:n.1699C>G
ENST00000684455.1:c.1273C>G
ENST00000684642.1:c.1457C>G	ENSP00000507355.1:p.Pro486Arg
ENST00000684740.1:n.2238C>G
ENST00000303236.9:c.2060C>G MANE Select	ENSP00000307235.3:p.Pro687Arg
ENST00000652099.1:c.2254C>G
ENST00000652736.1:n.1936C>G
ENST00000303236.7:c.2060C>G	ENSP00000307235.3:p.Pro687Arg
ENST00000415570.1:c.1697C>G	ENSP00000412076.1:p.Pro566Arg
ENST00000419748.5:c.1607C>G	ENSP00000408325.1:p.Pro536Arg
ENST00000478003.1:n.626C>G
NM_001313915.1:c.1607C>G	NP_001300844.1:p.Pro536Arg
NM_004836.5:c.2060C>G	NP_004827.4:p.Pro687Arg
NM_004836.6:c.2060C>G	NP_004827.4:p.Pro687Arg
NR_110236.1:n.1560G>C
XM_005264649.3:c.1376C>G	XP_005264706.1:p.Pro459Arg
XR_939749.1:n.2339C>G
XM_017005376.2:c.1376C>G	XP_016860865.1:p.Pro459Arg
NM_004836.7:c.2060C>G MANE Select	NP_004827.4:p.Pro687Arg
NM_001313915.2:c.1607C>G	NP_001300844.1:p.Pro536Arg