Canonical Allele Identifier: CA1754475

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs762335106
• ExAC: 2:88874740 G / C
• gnomAD v2: 2-88874740-G-C
• gnomAD v4: 2-88575222-G-C
• MyVariant Identifiers: chr2:g.88874740G>C (hg19) ; chr2:g.88575222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575222G>C , CM000664.2:g.88575222G>C	GRCh38
NC_000002.11:g.88874740G>C , CM000664.1:g.88874740G>C	GRCh37
NC_000002.10:g.88655855G>C	NCBI36
NG_016424.1:g.57355C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2089C>G
ENST00000682276.1:n.1706C>G
ENST00000682892.1:c.1808C>G	ENSP00000507214.1:p.Ser603Ter
ENST00000682952.1:n.1900C>G
ENST00000684455.1:c.1474C>G
ENST00000684642.1:c.1658C>G	ENSP00000507355.1:p.Ser553Ter
ENST00000684740.1:n.2439C>G
ENST00000303236.9:c.2261C>G MANE Select	ENSP00000307235.3:p.Ser754Ter
ENST00000652099.1:c.2455C>G
ENST00000652736.1:n.2137C>G
ENST00000303236.7:c.2261C>G	ENSP00000307235.3:p.Ser754Ter
ENST00000415570.1:c.1898C>G	ENSP00000412076.1:p.Ser633Ter
ENST00000419748.5:c.1808C>G	ENSP00000408325.1:p.Ser603Ter
ENST00000470706.1:n.48+139C>G
NM_001313915.1:c.1808C>G	NP_001300844.1:p.Ser603Ter
NM_004836.5:c.2261C>G	NP_004827.4:p.Ser754Ter
NM_004836.6:c.2261C>G	NP_004827.4:p.Ser754Ter
NR_110236.1:n.1359G>C
XM_005264649.3:c.1577C>G	XP_005264706.1:p.Ser526Ter
XM_017005376.2:c.1577C>G	XP_016860865.1:p.Ser526Ter
NM_004836.7:c.2261C>G MANE Select	NP_004827.4:p.Ser754Ter
NM_001313915.2:c.1808C>G	NP_001300844.1:p.Ser603Ter