ClinGen Allele Registry
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Canonical Allele Identifier:
CA021836
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.47402967G>C
GRCh37
chr2:g.47630106G>C
Linked Data - Sequence & Population
gnomAD v2:
2:47630106 G / C
gnomAD v3:
2:47402967 G / C
gnomAD v4:
chr2-47402967-G-C
Joint Max Group AF
0.00217146 (EAS)
Genomes Max Group AF
0.00133453 (EAS)
Exomes Max Group AF
0.00218116 (EAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165718
RCV000409105
RCV001567568
RCV002055083
ClinVar Variation:
90488
dbSNP:
138068023
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.47402967G>C , CM000664.2:g.47402967G>C
GRCh38
NC_000002.11:g.47630106G>C , CM000664.1:g.47630106G>C
GRCh37
NC_000002.10:g.47483610G>C
NCBI36
NG_007110.2:g.4844G>C , LRG_218:g.4844G>C
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