Canonical Allele Identifier: CA347593005

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575426-G-C
• MyVariant Identifiers: chr2:g.88874944G>C (hg19) ; chr2:g.88575426G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1885C>G
ENST00000682276.1:n.1502C>G
ENST00000682892.1:c.1604C>G	ENSP00000507214.1:p.Ser535Cys
ENST00000682952.1:n.1696C>G
ENST00000684455.1:c.1270C>G
ENST00000684642.1:c.1454C>G	ENSP00000507355.1:p.Ser485Cys
ENST00000684740.1:n.2235C>G
ENST00000303236.9:c.2057C>G MANE Select	ENSP00000307235.3:p.Ser686Cys
ENST00000652099.1:c.2251C>G
ENST00000652736.1:n.1933C>G
ENST00000303236.7:c.2057C>G	ENSP00000307235.3:p.Ser686Cys
ENST00000415570.1:c.1694C>G	ENSP00000412076.1:p.Ser565Cys
ENST00000419748.5:c.1604C>G	ENSP00000408325.1:p.Ser535Cys
ENST00000478003.1:n.623C>G
NM_001313915.1:c.1604C>G	NP_001300844.1:p.Ser535Cys
NM_004836.5:c.2057C>G	NP_004827.4:p.Ser686Cys
NM_004836.6:c.2057C>G	NP_004827.4:p.Ser686Cys
NR_110236.1:n.1563G>C
XM_005264649.3:c.1373C>G	XP_005264706.1:p.Ser458Cys
XR_939749.1:n.2336C>G
XM_017005376.2:c.1373C>G	XP_016860865.1:p.Ser458Cys
NM_004836.7:c.2057C>G MANE Select	NP_004827.4:p.Ser686Cys
NM_001313915.2:c.1604C>G	NP_001300844.1:p.Ser535Cys