Canonical Allele Identifier: CA1754515

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs773112872
• ExAC: 2:88874944 G / A
• gnomAD v2: 2-88874944-G-A
• gnomAD v4: 2-88575426-G-A
• COSMIC: COSM5025669 ; COSM5025670
• MyVariant Identifiers: chr2:g.88874944G>A (hg19) ; chr2:g.88575426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575426G>A , CM000664.2:g.88575426G>A	GRCh38
NC_000002.11:g.88874944G>A , CM000664.1:g.88874944G>A	GRCh37
NC_000002.10:g.88656059G>A	NCBI36
NG_016424.1:g.57151C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1885C>T
ENST00000682276.1:n.1502C>T
ENST00000682892.1:c.1604C>T	ENSP00000507214.1:p.Ser535Phe
ENST00000682952.1:n.1696C>T
ENST00000684455.1:c.1270C>T
ENST00000684642.1:c.1454C>T	ENSP00000507355.1:p.Ser485Phe
ENST00000684740.1:n.2235C>T
ENST00000303236.9:c.2057C>T MANE Select	ENSP00000307235.3:p.Ser686Phe
ENST00000652099.1:c.2251C>T
ENST00000652736.1:n.1933C>T
ENST00000303236.7:c.2057C>T	ENSP00000307235.3:p.Ser686Phe
ENST00000415570.1:c.1694C>T	ENSP00000412076.1:p.Ser565Phe
ENST00000419748.5:c.1604C>T	ENSP00000408325.1:p.Ser535Phe
ENST00000478003.1:n.623C>T
NM_001313915.1:c.1604C>T	NP_001300844.1:p.Ser535Phe
NM_004836.5:c.2057C>T	NP_004827.4:p.Ser686Phe
NM_004836.6:c.2057C>T	NP_004827.4:p.Ser686Phe
NR_110236.1:n.1563G>A
XM_005264649.3:c.1373C>T	XP_005264706.1:p.Ser458Phe
XR_939749.1:n.2336C>T
XM_017005376.2:c.1373C>T	XP_016860865.1:p.Ser458Phe
NM_004836.7:c.2057C>T MANE Select	NP_004827.4:p.Ser686Phe
NM_001313915.2:c.1604C>T	NP_001300844.1:p.Ser535Phe