ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA43254733
Gene:
Linked Data
dbSNP Id:
rs937186718
gnomAD v3:
2-16458200-T-C
gnomAD v4:
2-16458200-T-C
MyVariant Identifiers:
chr2:g.16639468T>C (hg19)
chr2:g.16458200T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458200T>C , CM000664.2:g.16458200T>C
GRCh38
NC_000002.11:g.16639468T>C , CM000664.1:g.16639468T>C
GRCh37
NC_000002.10:g.16502949T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3106A>G
Search 100 bp 5'
Search 100 bp 3'