Canonical Allele Identifier: CA427445377

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575221-T-G
• MyVariant Identifiers: chr2:g.88874739T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575221T>G , CM000664.2:g.88575221T>G	GRCh38
NC_000002.11:g.88874739T>G , CM000664.1:g.88874739T>G	GRCh37
NC_000002.10:g.88655854T>G	NCBI36
NG_016424.1:g.57356A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2090A>C
ENST00000682276.1:n.1707A>C
ENST00000682892.1:c.1809A>C	ENSP00000507214.1:p.Ser603=
ENST00000682952.1:n.1901A>C
ENST00000684455.1:c.1475A>C
ENST00000684642.1:c.1659A>C	ENSP00000507355.1:p.Ser553=
ENST00000684740.1:n.2440A>C
ENST00000303236.9:c.2262A>C MANE Select	ENSP00000307235.3:p.Ser754=
ENST00000652099.1:c.2456A>C
ENST00000652736.1:n.2138A>C
ENST00000303236.7:c.2262A>C	ENSP00000307235.3:p.Ser754=
ENST00000415570.1:c.1899A>C	ENSP00000412076.1:p.Ser633=
ENST00000419748.5:c.1809A>C	ENSP00000408325.1:p.Ser603=
ENST00000470706.1:n.48+140A>C
NM_001313915.1:c.1809A>C	NP_001300844.1:p.Ser603=
NM_004836.5:c.2262A>C	NP_004827.4:p.Ser754=
NM_004836.6:c.2262A>C	NP_004827.4:p.Ser754=
NR_110236.1:n.1358T>G
XM_005264649.3:c.1578A>C	XP_005264706.1:p.Ser526=
XM_017005376.2:c.1578A>C	XP_016860865.1:p.Ser526=
NM_004836.7:c.2262A>C MANE Select	NP_004827.4:p.Ser754=
NM_001313915.2:c.1809A>C	NP_001300844.1:p.Ser603=