ClinGen Allele Registry
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Canonical Allele Identifier:
CA11282174
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.218162779G>C
GRCh37
chr2:g.219027502G>C
Linked Data - Sequence & Population
gnomAD v2:
2:219027502 G / C
gnomAD v3:
2:218162779 G / C
gnomAD v4:
chr2-218162779-G-C
Joint Max Group AF
0.9370611 (NFE)
Genomes Max Group AF
0.93708111 (NFE)
Exomes Max Group AF
0.80364867 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2854386
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218162779G>C , CM000664.2:g.218162779G>C
GRCh38
NC_000002.11:g.219027502G>C , CM000664.1:g.219027502G>C
GRCh37
NC_000002.10:g.218735747G>C
NCBI36
NG_011814.1:g.9215C>G
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