ClinGen Allele Registry
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Canonical Allele Identifier:
CA57818429
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.144594254T>C
GRCh37
chr2:g.145351821T>C
Linked Data - Sequence & Population
gnomAD v2:
2:145351821 T / C
gnomAD v3:
2:144594254 T / C
gnomAD v4:
chr2-144594254-T-C
Joint Max Group AF
0.97947421 (NFE)
Genomes Max Group AF
0.97947421 (NFE)
Linked Data - NCBI & NCI
dbSNP:
7355746
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.144594254T>C , CM000664.2:g.144594254T>C
GRCh38
NC_000002.11:g.145351821T>C , CM000664.1:g.145351821T>C
GRCh37
NC_000002.10:g.145068291T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'