ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA532872852
Gene:
Linked Data
dbSNP Id:
rs1269523096
gnomAD v2:
2-52949590-G-C
gnomAD v3:
2-52722452-G-C
gnomAD v4:
2-52722452-G-C
MyVariant Identifiers:
chr2:g.52949590G>C (hg19)
chr2:g.52722452G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.52722452G>C , CM000664.2:g.52722452G>C
GRCh38
NC_000002.11:g.52949590G>C , CM000664.1:g.52949590G>C
GRCh37
NC_000002.10:g.52803094G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959384.1:n.805C>G
Search 100 bp 5'
Search 100 bp 3'