ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA43588625
Gene:
Linked Data
dbSNP Id:
rs10495669
gnomAD v2:
2-18025273-C-G
gnomAD v3:
2-17844006-C-G
gnomAD v4:
2-17844006-C-G
MyVariant Identifiers:
chr2:g.18025273C>G (hg19)
chr2:g.17844006C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17844006C>G , CM000664.2:g.17844006C>G
GRCh38
NC_000002.11:g.18025273C>G , CM000664.1:g.18025273C>G
GRCh37
NC_000002.10:g.17888754C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939764.2:n.447+3688G>C
Search 100 bp 5'
Search 100 bp 3'