ClinGen Allele Registry
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Canonical Allele Identifier:
CA11044324
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.215439661T>C
GRCh37
chr2:g.216304384T>C
Linked Data - Sequence & Population
gnomAD v2:
2:216304384 T / C
gnomAD v3:
2:215439661 T / C
gnomAD v4:
chr2-215439661-T-C
Joint Max Group AF
0.90040604 (EAS)
Genomes Max Group AF
0.90040604 (EAS)
Linked Data - NCBI & NCI
dbSNP:
1250229
2103138360
2103138361
2103138363
2103138366
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.215439661T>C , CM000664.2:g.215439661T>C
GRCh38
NC_000002.11:g.216304384T>C , CM000664.1:g.216304384T>C
GRCh37
NC_000002.10:g.216012629T>C
NCBI36
NG_012196.1:g.1408A>G
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