ClinGen Allele Registry
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Canonical Allele Identifier:
CA540270986
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.229744433C>G
GRCh37
chr2:g.230609149C>G
Linked Data - Sequence & Population
gnomAD v2:
2:230609149 C / G
gnomAD v3:
2:229744433 C / G
gnomAD v4:
chr2-229744433-C-G
Joint Max Group AF
0.00004766 (NFE)
Genomes Max Group AF
0.00004766 (NFE)
Linked Data - NCBI & NCI
dbSNP:
6707272
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.229744433C>G , CM000664.2:g.229744433C>G
GRCh38
NC_000002.11:g.230609149C>G , CM000664.1:g.230609149C>G
GRCh37
NC_000002.10:g.230317393C>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'