ClinGen Allele Registry
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Canonical Allele Identifier:
CA11203355
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.175790010A>G
GRCh37
chr2:g.176654738A>G
Linked Data - Sequence & Population
gnomAD v2:
2:176654738 A / G
gnomAD v3:
2:175790010 A / G
gnomAD v4:
chr2-175790010-A-G
Joint Max Group AF
0.84164612 (AFR)
Genomes Max Group AF
0.84164612 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7566934
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.175790010A>G , CM000664.2:g.175790010A>G
GRCh38
NC_000002.11:g.176654738A>G , CM000664.1:g.176654738A>G
GRCh37
NC_000002.10:g.176362984A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739794.1:n.378-4234T>C
Search 100 bp 5'
Search 100 bp 3'