ClinGen Allele Registry
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Canonical Allele Identifier:
CA66677268
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.227720182T>C
GRCh37
chr2:g.228584898T>C
Linked Data - Sequence & Population
gnomAD v3:
2:227720182 T / C
gnomAD v4:
chr2-227720182-T-C
Joint Max Group AF
0.00004743 (AFR)
Genomes Max Group AF
0.00004743 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11691652
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.227720182T>C , CM000664.2:g.227720182T>C
GRCh38
NC_000002.11:g.228584898T>C , CM000664.1:g.228584898T>C
GRCh37
NC_000002.10:g.228293142T>C
NCBI36
NG_016359.1:g.2848A>G
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