Canonical Allele Identifier: CA347592522

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874811C>G (hg19) ; chr2:g.88575293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575293C>G , CM000664.2:g.88575293C>G	GRCh38
NC_000002.11:g.88874811C>G , CM000664.1:g.88874811C>G	GRCh37
NC_000002.10:g.88655926C>G	NCBI36
NG_016424.1:g.57284G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2018G>C
ENST00000682276.1:n.1635G>C
ENST00000682892.1:c.1737G>C	ENSP00000507214.1:p.Gln579His
ENST00000682952.1:n.1829G>C
ENST00000684455.1:c.1403G>C
ENST00000684642.1:c.1587G>C	ENSP00000507355.1:p.Gln529His
ENST00000684740.1:n.2368G>C
ENST00000303236.9:c.2190G>C MANE Select	ENSP00000307235.3:p.Gln730His
ENST00000652099.1:c.2384G>C
ENST00000652736.1:n.2066G>C
ENST00000303236.7:c.2190G>C	ENSP00000307235.3:p.Gln730His
ENST00000415570.1:c.1827G>C	ENSP00000412076.1:p.Gln609His
ENST00000419748.5:c.1737G>C	ENSP00000408325.1:p.Gln579His
ENST00000470706.1:n.48+68G>C
NM_001313915.1:c.1737G>C	NP_001300844.1:p.Gln579His
NM_004836.5:c.2190G>C	NP_004827.4:p.Gln730His
NM_004836.6:c.2190G>C	NP_004827.4:p.Gln730His
NR_110236.1:n.1430C>G
XM_005264649.3:c.1506G>C	XP_005264706.1:p.Gln502His
XR_939749.1:n.2469G>C
XM_017005376.2:c.1506G>C	XP_016860865.1:p.Gln502His
NM_004836.7:c.2190G>C MANE Select	NP_004827.4:p.Gln730His
NM_001313915.2:c.1737G>C	NP_001300844.1:p.Gln579His