Canonical Allele Identifier: CA51486764

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1013032001
• COSMIC: COSM419073 ; COSM2823656
• MyVariant Identifiers: chr2:g.88874949G>A (hg19) ; chr2:g.88575431G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575431G>A , CM000664.2:g.88575431G>A	GRCh38
NC_000002.11:g.88874949G>A , CM000664.1:g.88874949G>A	GRCh37
NC_000002.10:g.88656064G>A	NCBI36
NG_016424.1:g.57146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1880C>T
ENST00000682276.1:n.1497C>T
ENST00000682892.1:c.1599C>T	ENSP00000507214.1:p.Leu533=
ENST00000682952.1:n.1691C>T
ENST00000684455.1:c.1265C>T
ENST00000684642.1:c.1449C>T	ENSP00000507355.1:p.Leu483=
ENST00000684740.1:n.2230C>T
ENST00000303236.9:c.2052C>T MANE Select	ENSP00000307235.3:p.Leu684=
ENST00000652099.1:c.2246C>T
ENST00000652736.1:n.1928C>T
ENST00000303236.7:c.2052C>T	ENSP00000307235.3:p.Leu684=
ENST00000415570.1:c.1689C>T	ENSP00000412076.1:p.Leu563=
ENST00000419748.5:c.1599C>T	ENSP00000408325.1:p.Leu533=
ENST00000478003.1:n.618C>T
NM_001313915.1:c.1599C>T	NP_001300844.1:p.Leu533=
NM_004836.5:c.2052C>T	NP_004827.4:p.Leu684=
NM_004836.6:c.2052C>T	NP_004827.4:p.Leu684=
NR_110236.1:n.1568G>A
XM_005264649.3:c.1368C>T	XP_005264706.1:p.Leu456=
XR_939749.1:n.2331C>T
XM_017005376.2:c.1368C>T	XP_016860865.1:p.Leu456=
NM_004836.7:c.2052C>T MANE Select	NP_004827.4:p.Leu684=
NM_001313915.2:c.1599C>T	NP_001300844.1:p.Leu533=