Canonical Allele Identifier: CA347593010

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575429-C-T
• MyVariant Identifiers: chr2:g.88874947C>T (hg19) ; chr2:g.88575429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575429C>T , CM000664.2:g.88575429C>T	GRCh38
NC_000002.11:g.88874947C>T , CM000664.1:g.88874947C>T	GRCh37
NC_000002.10:g.88656062C>T	NCBI36
NG_016424.1:g.57148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1882G>A
ENST00000682276.1:n.1499G>A
ENST00000682892.1:c.1601G>A	ENSP00000507214.1:p.Ser534Asn
ENST00000682952.1:n.1693G>A
ENST00000684455.1:c.1267G>A
ENST00000684642.1:c.1451G>A	ENSP00000507355.1:p.Ser484Asn
ENST00000684740.1:n.2232G>A
ENST00000303236.9:c.2054G>A MANE Select	ENSP00000307235.3:p.Ser685Asn
ENST00000652099.1:c.2248G>A
ENST00000652736.1:n.1930G>A
ENST00000303236.7:c.2054G>A	ENSP00000307235.3:p.Ser685Asn
ENST00000415570.1:c.1691G>A	ENSP00000412076.1:p.Ser564Asn
ENST00000419748.5:c.1601G>A	ENSP00000408325.1:p.Ser534Asn
ENST00000478003.1:n.620G>A
NM_001313915.1:c.1601G>A	NP_001300844.1:p.Ser534Asn
NM_004836.5:c.2054G>A	NP_004827.4:p.Ser685Asn
NM_004836.6:c.2054G>A	NP_004827.4:p.Ser685Asn
NR_110236.1:n.1566C>T
XM_005264649.3:c.1370G>A	XP_005264706.1:p.Ser457Asn
XR_939749.1:n.2333G>A
XM_017005376.2:c.1370G>A	XP_016860865.1:p.Ser457Asn
NM_004836.7:c.2054G>A MANE Select	NP_004827.4:p.Ser685Asn
NM_001313915.2:c.1601G>A	NP_001300844.1:p.Ser534Asn