ClinGen Allele Registry
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Canonical Allele Identifier:
CA11060050
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.21044910T>C
GRCh37
chr2:g.21267782T>C
Linked Data - Sequence & Population
gnomAD v2:
2:21267782 T / C
gnomAD v3:
2:21044910 T / C
gnomAD v4:
chr2-21044910-T-C
Joint Max Group AF
0.77169153 (EAS)
Genomes Max Group AF
0.77169153 (EAS)
Linked Data - NCBI & NCI
dbSNP:
512535
2103140779
2103140782
2103140789
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21044910T>C , CM000664.2:g.21044910T>C
GRCh38
NC_000002.11:g.21267782T>C , CM000664.1:g.21267782T>C
GRCh37
NC_000002.10:g.21121287T>C
NCBI36
NG_011793.1:g.4164A>G
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