Canonical Allele Identifier: CA347593067

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88876073T>G (hg19) ; chr2:g.88576555T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88576555T>G , CM000664.2:g.88576555T>G	GRCh38
NC_000002.11:g.88876073T>G , CM000664.1:g.88876073T>G	GRCh37
NC_000002.10:g.88657188T>G	NCBI36
NG_016424.1:g.56022A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1863A>C
ENST00000682276.1:n.1480A>C
ENST00000682892.1:c.1582A>C	ENSP00000507214.1:p.Ser528Arg
ENST00000682952.1:n.1674A>C
ENST00000684455.1:c.1248A>C
ENST00000684642.1:c.1432A>C	ENSP00000507355.1:p.Ser478Arg
ENST00000684740.1:n.2213A>C
ENST00000303236.9:c.2035A>C MANE Select	ENSP00000307235.3:p.Ser679Arg
ENST00000652099.1:c.2229A>C
ENST00000652736.1:n.1911A>C
ENST00000303236.7:c.2035A>C	ENSP00000307235.3:p.Ser679Arg
ENST00000415570.1:c.1672A>C	ENSP00000412076.1:p.Ser558Arg
ENST00000419748.5:c.1582A>C	ENSP00000408325.1:p.Ser528Arg
ENST00000478003.1:n.601A>C
NM_001313915.1:c.1582A>C	NP_001300844.1:p.Ser528Arg
NM_004836.5:c.2035A>C	NP_004827.4:p.Ser679Arg
NM_004836.6:c.2035A>C	NP_004827.4:p.Ser679Arg
XM_005264649.3:c.1351A>C	XP_005264706.1:p.Ser451Arg
XR_939749.1:n.2314A>C
XM_017005376.2:c.1351A>C	XP_016860865.1:p.Ser451Arg
NM_004836.7:c.2035A>C MANE Select	NP_004827.4:p.Ser679Arg
NM_001313915.2:c.1582A>C	NP_001300844.1:p.Ser528Arg