ClinGen Allele Registry
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Canonical Allele Identifier:
CA15206379
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.16534140A>G
GRCh37
chr2:g.16715408A>G
Linked Data - Sequence & Population
gnomAD v2:
2:16715408 A / G
gnomAD v3:
2:16534140 A / G
gnomAD v4:
chr2-16534140-A-G
Joint Max Group AF
0.70392056 (EAS)
Genomes Max Group AF
0.70392056 (EAS)
Linked Data - NCBI & NCI
dbSNP:
4441471
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16534140A>G , CM000664.2:g.16534140A>G
GRCh38
NC_000002.11:g.16715408A>G , CM000664.1:g.16715408A>G
GRCh37
NC_000002.10:g.16578889A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939754.1:n.61-4242A>G
Search 100 bp 5'
Search 100 bp 3'