ClinGen Allele Registry
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Canonical Allele Identifier:
CA11039277
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.179352004C>A
GRCh37
chr2:g.180216731C>A
Linked Data - Sequence & Population
gnomAD v2:
2:180216731 C / A
gnomAD v3:
2:179352004 C / A
gnomAD v4:
chr2-179352004-C-A
Joint Max Group AF
0.58271259 (SAS)
Genomes Max Group AF
0.58271259 (SAS)
Linked Data - NCBI & NCI
dbSNP:
13403289
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.179352004C>A , CM000664.2:g.179352004C>A
GRCh38
NC_000002.11:g.180216731C>A , CM000664.1:g.180216731C>A
GRCh37
NC_000002.10:g.179924976C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'