Canonical Allele Identifier: CA1754466

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs566226789
• ExAC: 2:88874693 C / G
• gnomAD v2: 2-88874693-C-G
• gnomAD v3: 2-88575175-C-G
• gnomAD v4: 2-88575175-C-G
• MyVariant Identifiers: chr2:g.88874693C>G (hg19) ; chr2:g.88575175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575175C>G , CM000664.2:g.88575175C>G	GRCh38
NC_000002.11:g.88874693C>G , CM000664.1:g.88874693C>G	GRCh37
NC_000002.10:g.88655808C>G	NCBI36
NG_016424.1:g.57402G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2136G>C
ENST00000682276.1:n.1753G>C
ENST00000682892.1:c.1855G>C	ENSP00000507214.1:p.Asp619His
ENST00000682952.1:n.1947G>C
ENST00000684455.1:c.1521G>C
ENST00000684642.1:c.1705G>C	ENSP00000507355.1:p.Asp569His
ENST00000684740.1:n.2486G>C
ENST00000303236.9:c.2308G>C MANE Select	ENSP00000307235.3:p.Asp770His
ENST00000652099.1:c.2502G>C
ENST00000652736.1:n.2184G>C
ENST00000303236.7:c.2308G>C	ENSP00000307235.3:p.Asp770His
ENST00000415570.1:c.1945G>C	ENSP00000412076.1:p.Asp649His
ENST00000419748.5:c.1855G>C	ENSP00000408325.1:p.Asp619His
ENST00000470706.1:n.49-98G>C
NM_001313915.1:c.1855G>C	NP_001300844.1:p.Asp619His
NM_004836.5:c.2308G>C	NP_004827.4:p.Asp770His
NM_004836.6:c.2308G>C	NP_004827.4:p.Asp770His
NR_110236.1:n.1312C>G
XM_005264649.3:c.1624G>C	XP_005264706.1:p.Asp542His
XM_017005376.2:c.1624G>C	XP_016860865.1:p.Asp542His
NM_004836.7:c.2308G>C MANE Select	NP_004827.4:p.Asp770His
NM_001313915.2:c.1855G>C	NP_001300844.1:p.Asp619His