Canonical Allele Identifier: CA347591332

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1896235
• ClinVar RCV Id: RCV002575068
• dbSNP Id: rs1397242777
• gnomAD v2: 2-88874549-T-C
• gnomAD v3: 2-88575031-T-C
• gnomAD v4: 2-88575031-T-C
• MyVariant Identifiers: chr2:g.88874549T>C (hg19) ; chr2:g.88575031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575031T>C , CM000664.2:g.88575031T>C	GRCh38
NC_000002.11:g.88874549T>C , CM000664.1:g.88874549T>C	GRCh37
NC_000002.10:g.88655664T>C	NCBI36
NG_016424.1:g.57546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2280A>G
ENST00000682276.1:n.1897A>G
ENST00000682892.1:c.1999A>G	ENSP00000507214.1:p.Ser667Gly
ENST00000682952.1:n.2091A>G
ENST00000684455.1:c.1665A>G
ENST00000684642.1:c.1849A>G	ENSP00000507355.1:p.Ser617Gly
ENST00000684740.1:n.2630A>G
ENST00000303236.9:c.2452A>G MANE Select	ENSP00000307235.3:p.Ser818Gly
ENST00000652099.1:c.2646A>G
ENST00000652736.1:n.2328A>G
ENST00000303236.7:c.2452A>G	ENSP00000307235.3:p.Ser818Gly
ENST00000415570.1:c.2089A>G	ENSP00000412076.1:p.Ser697Gly
ENST00000419748.5:c.1999A>G	ENSP00000408325.1:p.Ser667Gly
ENST00000470706.1:n.95A>G
NM_001313915.1:c.1999A>G	NP_001300844.1:p.Ser667Gly
NM_004836.5:c.2452A>G	NP_004827.4:p.Ser818Gly
NM_004836.6:c.2452A>G	NP_004827.4:p.Ser818Gly
NR_110236.1:n.1168T>C
XM_005264649.3:c.1768A>G	XP_005264706.1:p.Ser590Gly
XM_017005376.2:c.1768A>G	XP_016860865.1:p.Ser590Gly
NM_004836.7:c.2452A>G MANE Select	NP_004827.4:p.Ser818Gly
NM_001313915.2:c.1999A>G	NP_001300844.1:p.Ser667Gly