Canonical Allele Identifier: CA347593051

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874964G>T (hg19) ; chr2:g.88575446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575446G>T , CM000664.2:g.88575446G>T	GRCh38
NC_000002.11:g.88874964G>T , CM000664.1:g.88874964G>T	GRCh37
NC_000002.10:g.88656079G>T	NCBI36
NG_016424.1:g.57131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865C>A
ENST00000682276.1:n.1482C>A
ENST00000682892.1:c.1584C>A	ENSP00000507214.1:p.Ser528Arg
ENST00000682952.1:n.1676C>A
ENST00000684455.1:c.1250C>A
ENST00000684642.1:c.1434C>A	ENSP00000507355.1:p.Ser478Arg
ENST00000684740.1:n.2215C>A
ENST00000303236.9:c.2037C>A MANE Select	ENSP00000307235.3:p.Ser679Arg
ENST00000652099.1:c.2231C>A
ENST00000652736.1:n.1913C>A
ENST00000303236.7:c.2037C>A	ENSP00000307235.3:p.Ser679Arg
ENST00000415570.1:c.1674C>A	ENSP00000412076.1:p.Ser558Arg
ENST00000419748.5:c.1584C>A	ENSP00000408325.1:p.Ser528Arg
ENST00000478003.1:n.603C>A
NM_001313915.1:c.1584C>A	NP_001300844.1:p.Ser528Arg
NM_004836.5:c.2037C>A	NP_004827.4:p.Ser679Arg
NM_004836.6:c.2037C>A	NP_004827.4:p.Ser679Arg
NR_110236.1:n.1583G>T
XM_005264649.3:c.1353C>A	XP_005264706.1:p.Ser451Arg
XR_939749.1:n.2316C>A
XM_017005376.2:c.1353C>A	XP_016860865.1:p.Ser451Arg
NM_004836.7:c.2037C>A MANE Select	NP_004827.4:p.Ser679Arg
NM_001313915.2:c.1584C>A	NP_001300844.1:p.Ser528Arg