Canonical Allele Identifier: CA347592949

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874917A>C (hg19) ; chr2:g.88575399A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575399A>C , CM000664.2:g.88575399A>C	GRCh38
NC_000002.11:g.88874917A>C , CM000664.1:g.88874917A>C	GRCh37
NC_000002.10:g.88656032A>C	NCBI36
NG_016424.1:g.57178T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1912T>G
ENST00000682276.1:n.1529T>G
ENST00000682892.1:c.1631T>G	ENSP00000507214.1:p.Val544Gly
ENST00000682952.1:n.1723T>G
ENST00000684455.1:c.1297T>G
ENST00000684642.1:c.1481T>G	ENSP00000507355.1:p.Val494Gly
ENST00000684740.1:n.2262T>G
ENST00000303236.9:c.2084T>G MANE Select	ENSP00000307235.3:p.Val695Gly
ENST00000652099.1:c.2278T>G
ENST00000652736.1:n.1960T>G
ENST00000303236.7:c.2084T>G	ENSP00000307235.3:p.Val695Gly
ENST00000415570.1:c.1721T>G	ENSP00000412076.1:p.Val574Gly
ENST00000419748.5:c.1631T>G	ENSP00000408325.1:p.Val544Gly
ENST00000470706.1:n.10T>G
ENST00000478003.1:n.650T>G
NM_001313915.1:c.1631T>G	NP_001300844.1:p.Val544Gly
NM_004836.5:c.2084T>G	NP_004827.4:p.Val695Gly
NM_004836.6:c.2084T>G	NP_004827.4:p.Val695Gly
NR_110236.1:n.1536A>C
XM_005264649.3:c.1400T>G	XP_005264706.1:p.Val467Gly
XR_939749.1:n.2363T>G
XM_017005376.2:c.1400T>G	XP_016860865.1:p.Val467Gly
NM_004836.7:c.2084T>G MANE Select	NP_004827.4:p.Val695Gly
NM_001313915.2:c.1631T>G	NP_001300844.1:p.Val544Gly