ClinGen Allele Registry
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Canonical Allele Identifier:
CA762732236
Gene:
Linked Data
dbSNP Id:
rs1246177017
gnomAD v3:
2-195006881-C-G
gnomAD v4:
2-195006881-C-G
MyVariant Identifiers:
chr2:g.195871605C>G (hg19)
chr2:g.195006881C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195006881C>G , CM000664.2:g.195006881C>G
GRCh38
NC_000002.11:g.195871605C>G , CM000664.1:g.195871605C>G
GRCh37
NC_000002.10:g.195579850C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739836.1:n.553+52554G>C
Search 100 bp 5'
Search 100 bp 3'