Canonical Allele Identifier: CA1754608

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2707468
• ClinVar RCV Id: RCV003544892
• dbSNP Id: rs767071009
• ExAC: 2:88882931 T / C
• gnomAD v2: 2-88882931-T-C
• gnomAD v4: 2-88583413-T-C
• MyVariant Identifiers: chr2:g.88882931T>C (hg19) ; chr2:g.88583413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583413T>C , CM000664.2:g.88583413T>C	GRCh38
NC_000002.11:g.88882931T>C , CM000664.1:g.88882931T>C	GRCh37
NC_000002.10:g.88664046T>C	NCBI36
NG_016424.1:g.49164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+17A>G
ENST00000682892.1:c.1310+17A>G	ENSP00000507214.1:n.1310+17A>G
ENST00000682952.1:n.1402+17A>G
ENST00000684455.1:c.976+17A>G
ENST00000684642.1:c.1160+17A>G	ENSP00000507355.1:n.1160+17A>G
ENST00000303236.9:c.1763+17A>G MANE Select	ENSP00000307235.3:n.1763+17A>G
ENST00000652099.1:c.1957+17A>G
ENST00000652736.1:n.1639+17A>G
ENST00000303236.7:c.1763+17A>G	ENSP00000307235.3:n.1763+17A>G
ENST00000415570.1:c.1400+17A>G	ENSP00000412076.1:n.1400+17A>G
ENST00000419748.5:c.1310+17A>G	ENSP00000408325.1:n.1310+17A>G
NM_001313915.1:c.1310+17A>G	NP_001300844.1:n.1310+17A>G
NM_004836.5:c.1763+17A>G	NP_004827.4:n.1763+17A>G
NM_004836.6:c.1763+17A>G	NP_004827.4:n.1763+17A>G
XM_005264649.3:c.1079+17A>G	XP_005264706.1:n.1079+17A>G
XR_939749.1:n.1972+17A>G
XM_017005376.2:c.1079+17A>G	XP_016860865.1:n.1079+17A>G
NM_004836.7:c.1763+17A>G MANE Select	NP_004827.4:n.1763+17A>G
NM_001313915.2:c.1310+17A>G	NP_001300844.1:n.1310+17A>G