ClinGen Allele Registry
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Canonical Allele Identifier:
CA11194802
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.112840530G>A
GRCh37
chr2:g.113598107G>A
Linked Data - Sequence & Population
gnomAD v2:
2:113598107 G / A
gnomAD v3:
2:112840530 G / A
gnomAD v4:
chr2-112840530-G-A
Joint Max Group AF
0.47413784 (EAS)
Genomes Max Group AF
0.47570207 (EAS)
Exomes Max Group AF
0.40906493 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4848306
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.112840530G>A , CM000664.2:g.112840530G>A
GRCh38
NC_000002.11:g.113598107G>A , CM000664.1:g.113598107G>A
GRCh37
NC_000002.10:g.113314578G>A
NCBI36
NG_008851.1:g.1250C>T
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