ClinGen Allele Registry
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Canonical Allele Identifier:
CA11343372
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.192469177C>T
GRCh37
chr2:g.193333903C>T
Linked Data - Sequence & Population
gnomAD v2:
2:193333903 C / T
gnomAD v3:
2:192469177 C / T
gnomAD v4:
chr2-192469177-C-T
Joint Max Group AF
0.82493823 (NFE)
Genomes Max Group AF
0.82493823 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1385351
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.192469177C>T , CM000664.2:g.192469177C>T
GRCh38
NC_000002.11:g.193333903C>T , CM000664.1:g.193333903C>T
GRCh37
NC_000002.10:g.193042148C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'