ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA57819319
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.144602342C>T
GRCh37
chr2:g.145359909C>T
Linked Data - Sequence & Population
gnomAD v2:
2:145359909 C / T
gnomAD v3:
2:144602342 C / T
gnomAD v4:
chr2-144602342-C-T
Joint Max Group AF
0.23724315 (SAS)
Genomes Max Group AF
0.23724315 (SAS)
Linked Data - NCBI & NCI
dbSNP:
10496964
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.144602342C>T , CM000664.2:g.144602342C>T
GRCh38
NC_000002.11:g.145359909C>T , CM000664.1:g.145359909C>T
GRCh37
NC_000002.10:g.145076379C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'