ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA14630809
Gene: RNU6-2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.1021628T>C
GRCh37
chr19:g.1021627T>C
Linked Data - Sequence & Population
gnomAD v2:
19:1021627 T / C
gnomAD v3:
19:1021628 T / C
gnomAD v4:
chr19-1021628-T-C
Joint Max Group AF
0.135539 (MID)
Genomes Max Group AF
0.13459003 (NFE)
Exomes Max Group AF
0.03553614 (SAS)
Linked Data - NCBI & NCI
dbSNP:
117481827
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1021628T>C , CM000681.2:g.1021628T>C
GRCh38
NC_000019.9:g.1021627T>C , CM000681.1:g.1021627T>C
GRCh37
NC_000019.8:g.972627T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125730.1:n.107T>C
Search 100 bp 5'
Search 100 bp 3'