Canonical Allele Identifier: CA347592655

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874841C>G (hg19) ; chr2:g.88575323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575323C>G , CM000664.2:g.88575323C>G	GRCh38
NC_000002.11:g.88874841C>G , CM000664.1:g.88874841C>G	GRCh37
NC_000002.10:g.88655956C>G	NCBI36
NG_016424.1:g.57254G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1988G>C
ENST00000682276.1:n.1605G>C
ENST00000682892.1:c.1707G>C	ENSP00000507214.1:p.Arg569Ser
ENST00000682952.1:n.1799G>C
ENST00000684455.1:c.1373G>C
ENST00000684642.1:c.1557G>C	ENSP00000507355.1:p.Arg519Ser
ENST00000684740.1:n.2338G>C
ENST00000303236.9:c.2160G>C MANE Select	ENSP00000307235.3:p.Arg720Ser
ENST00000652099.1:c.2354G>C
ENST00000652736.1:n.2036G>C
ENST00000303236.7:c.2160G>C	ENSP00000307235.3:p.Arg720Ser
ENST00000415570.1:c.1797G>C	ENSP00000412076.1:p.Arg599Ser
ENST00000419748.5:c.1707G>C	ENSP00000408325.1:p.Arg569Ser
ENST00000470706.1:n.48+38G>C
NM_001313915.1:c.1707G>C	NP_001300844.1:p.Arg569Ser
NM_004836.5:c.2160G>C	NP_004827.4:p.Arg720Ser
NM_004836.6:c.2160G>C	NP_004827.4:p.Arg720Ser
NR_110236.1:n.1460C>G
XM_005264649.3:c.1476G>C	XP_005264706.1:p.Arg492Ser
XR_939749.1:n.2439G>C
XM_017005376.2:c.1476G>C	XP_016860865.1:p.Arg492Ser
NM_004836.7:c.2160G>C MANE Select	NP_004827.4:p.Arg720Ser
NM_001313915.2:c.1707G>C	NP_001300844.1:p.Arg569Ser