Canonical Allele Identifier: CA10616333
Gene: EIF2AK3 HGNC NCBI
ClinVar RCV:
RCV000354079
RCV000501083
RCV003422325
ClinVar Variation:
337426
dbSNP:
144057685
gnomAD v2:
2:88926993 T / C
gnomAD v3:
2:88627475 T / C
gnomAD v4:
chr2-88627475-T-C
Joint Max Group AF 0.00919133 (NFE)
Genomes Max Group AF 0.0098604 (NFE)
Exomes Max Group AF 0.00894675 (NFE)
MyVariant.info:
GRCh38 chr2:g.88627475T>C
GRCh37 chr2:g.88926993T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88627475T>C , CM000664.2:g.88627475T>C GRCh38
NC_000002.11:g.88926993T>C , CM000664.1:g.88926993T>C GRCh37
NC_000002.10:g.88708108T>C NCBI36
NG_016424.1:g.5102A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682892.1:c.-145-13622A>G ENSP00000507214.1:n.-145-13622A>G
ENST00000303236.7:c.-201A>G ENSP00000307235.3:n.-201A>G
NM_004836.5:c.-201A>G NP_004827.4:n.-201A>G
NM_004836.6:c.-201A>G NP_004827.4:n.-201A>G
XR_939749.1:n.9A>G
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