ClinGen Allele Registry
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Canonical Allele Identifier:
CA11289708
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.112771663T>C
GRCh37
chr2:g.113529240T>C
Linked Data - Sequence & Population
gnomAD v2:
2:113529240 T / C
gnomAD v3:
2:112771663 T / C
gnomAD v4:
chr2-112771663-T-C
Joint Max Group AF
0.3049397 (MID)
Genomes Max Group AF
0.29084349 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11677416
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.112771663T>C , CM000664.2:g.112771663T>C
GRCh38
NC_000002.11:g.113529240T>C , CM000664.1:g.113529240T>C
GRCh37
NC_000002.10:g.113245711T>C
NCBI36
Search 100 bp 5'
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