Canonical Allele Identifier: CA1754470

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs771151381
• ExAC: 2:88874710 C / T
• gnomAD v2: 2-88874710-C-T
• gnomAD v4: 2-88575192-C-T
• MyVariant Identifiers: chr2:g.88874710C>T (hg19) ; chr2:g.88575192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575192C>T , CM000664.2:g.88575192C>T	GRCh38
NC_000002.11:g.88874710C>T , CM000664.1:g.88874710C>T	GRCh37
NC_000002.10:g.88655825C>T	NCBI36
NG_016424.1:g.57385G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2119G>A
ENST00000682276.1:n.1736G>A
ENST00000682892.1:c.1838G>A	ENSP00000507214.1:p.Ser613Asn
ENST00000682952.1:n.1930G>A
ENST00000684455.1:c.1504G>A
ENST00000684642.1:c.1688G>A	ENSP00000507355.1:p.Ser563Asn
ENST00000684740.1:n.2469G>A
ENST00000303236.9:c.2291G>A MANE Select	ENSP00000307235.3:p.Ser764Asn
ENST00000652099.1:c.2485G>A
ENST00000652736.1:n.2167G>A
ENST00000303236.7:c.2291G>A	ENSP00000307235.3:p.Ser764Asn
ENST00000415570.1:c.1928G>A	ENSP00000412076.1:p.Ser643Asn
ENST00000419748.5:c.1838G>A	ENSP00000408325.1:p.Ser613Asn
ENST00000470706.1:n.49-115G>A
NM_001313915.1:c.1838G>A	NP_001300844.1:p.Ser613Asn
NM_004836.5:c.2291G>A	NP_004827.4:p.Ser764Asn
NM_004836.6:c.2291G>A	NP_004827.4:p.Ser764Asn
NR_110236.1:n.1329C>T
XM_005264649.3:c.1607G>A	XP_005264706.1:p.Ser536Asn
XM_017005376.2:c.1607G>A	XP_016860865.1:p.Ser536Asn
NM_004836.7:c.2291G>A MANE Select	NP_004827.4:p.Ser764Asn
NM_001313915.2:c.1838G>A	NP_001300844.1:p.Ser613Asn