ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA55212550
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.118111006G>C
GRCh37
chr2:g.118868582G>C
Linked Data - Sequence & Population
gnomAD v2:
2:118868582 G / C
gnomAD v3:
2:118111006 G / C
gnomAD v4:
chr2-118111006-G-C
Joint Max Group AF
0.38755767 (AFR)
Genomes Max Group AF
0.38755767 (AFR)
Linked Data - NCBI & NCI
dbSNP:
17047764
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118111006G>C , CM000664.2:g.118111006G>C
GRCh38
NC_000002.11:g.118868582G>C , CM000664.1:g.118868582G>C
GRCh37
NC_000002.10:g.118585052G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'