ClinGen Allele Registry
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Canonical Allele Identifier:
CA63790189
Gene:
Linked Data - Expert Curation
COSMIC:
COSN6680264
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.203874155C>T
GRCh37
chr2:g.204738878C>T
Linked Data - Sequence & Population
gnomAD v2:
2:204738878 C / T
gnomAD v3:
2:203874155 C / T
gnomAD v4:
chr2-203874155-C-T
Joint Max Group AF
0.00091885 (AMR)
Genomes Max Group AF
0.00091885 (AMR)
Linked Data - NCBI & NCI
dbSNP:
182533364
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203874155C>T , CM000664.2:g.203874155C>T
GRCh38
NC_000002.11:g.204738878C>T , CM000664.1:g.204738878C>T
GRCh37
NC_000002.10:g.204447123C>T
NCBI36
NG_011502.1:g.11370C>T
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