Canonical Allele Identifier: CA347592947

Gene: EIF2AK3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1912T>C
ENST00000682276.1:n.1529T>C
ENST00000682892.1:c.1631T>C	ENSP00000507214.1:p.Val544Ala
ENST00000682952.1:n.1723T>C
ENST00000684455.1:c.1297T>C
ENST00000684642.1:c.1481T>C	ENSP00000507355.1:p.Val494Ala
ENST00000684740.1:n.2262T>C
ENST00000303236.9:c.2084T>C MANE Select	ENSP00000307235.3:p.Val695Ala
ENST00000652099.1:c.2278T>C
ENST00000652736.1:n.1960T>C
ENST00000303236.7:c.2084T>C	ENSP00000307235.3:p.Val695Ala
ENST00000415570.1:c.1721T>C	ENSP00000412076.1:p.Val574Ala
ENST00000419748.5:c.1631T>C	ENSP00000408325.1:p.Val544Ala
ENST00000470706.1:n.10T>C
ENST00000478003.1:n.650T>C
NM_001313915.1:c.1631T>C	NP_001300844.1:p.Val544Ala
NM_004836.5:c.2084T>C	NP_004827.4:p.Val695Ala
NM_004836.6:c.2084T>C	NP_004827.4:p.Val695Ala
NR_110236.1:n.1536A>G
XM_005264649.3:c.1400T>C	XP_005264706.1:p.Val467Ala
XR_939749.1:n.2363T>C
XM_017005376.2:c.1400T>C	XP_016860865.1:p.Val467Ala
NM_004836.7:c.2084T>C MANE Select	NP_004827.4:p.Val695Ala
NM_001313915.2:c.1631T>C	NP_001300844.1:p.Val544Ala