ClinGen Allele Registry
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Canonical Allele Identifier:
CA42490409
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.9109909C>G
GRCh37
chr2:g.9250038C>G
Linked Data - Sequence & Population
gnomAD v2:
2:9250038 C / G
gnomAD v3:
2:9109909 C / G
gnomAD v4:
chr2-9109909-C-G
Joint Max Group AF
0.0002602 (AMR)
Genomes Max Group AF
0.0002602 (AMR)
Linked Data - NCBI & NCI
dbSNP:
1109670
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.9109909C>G , CM000664.2:g.9109909C>G
GRCh38
NC_000002.11:g.9250038C>G , CM000664.1:g.9250038C>G
GRCh37
NC_000002.10:g.9167489C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_922764.1:n.91G>C
XR_922765.1:n.75+364G>C
Search 100 bp 5'
Search 100 bp 3'