ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA11080350
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.120360548T>C
GRCh37
chr2:g.121118124T>C
Linked Data - Sequence & Population
gnomAD v2:
2:121118124 T / C
gnomAD v3:
2:120360548 T / C
gnomAD v4:
chr2-120360548-T-C
Joint Max Group AF
0.81024228 (AFR)
Genomes Max Group AF
0.81024228 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7579169
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.120360548T>C , CM000664.2:g.120360548T>C
GRCh38
NC_000002.11:g.121118124T>C , CM000664.1:g.121118124T>C
GRCh37
NC_000002.10:g.120834594T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'