ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA43254721
Gene:
Linked Data
dbSNP Id:
rs545061015
gnomAD v3:
2-16458129-C-G
gnomAD v4:
2-16458129-C-G
MyVariant Identifiers:
chr2:g.16639397C>G (hg19)
chr2:g.16458129C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458129C>G , CM000664.2:g.16458129C>G
GRCh38
NC_000002.11:g.16639397C>G , CM000664.1:g.16639397C>G
GRCh37
NC_000002.10:g.16502878C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3035G>C
Search 100 bp 5'
Search 100 bp 3'