ClinGen Allele Registry
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Canonical Allele Identifier:
CA11012110
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.48422566T>C
GRCh37
chr2:g.48649705T>C
Linked Data - Sequence & Population
gnomAD v2:
2:48649705 T / C
gnomAD v3:
2:48422566 T / C
gnomAD v4:
chr2-48422566-T-C
Joint Max Group AF
0.6171982 (NFE)
Genomes Max Group AF
0.6171982 (NFE)
Linked Data - NCBI & NCI
dbSNP:
7565792
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.48422566T>C , CM000664.2:g.48422566T>C
GRCh38
NC_000002.11:g.48649705T>C , CM000664.1:g.48649705T>C
GRCh37
NC_000002.10:g.48503209T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'