ClinGen Allele Registry
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Canonical Allele Identifier:
CA64382891
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.200033174T>C
GRCh37
chr2:g.200897897T>C
Linked Data - Sequence & Population
gnomAD v2:
2:200897897 T / C
gnomAD v3:
2:200033174 T / C
gnomAD v4:
chr2-200033174-T-C
Joint Max Group AF
0.22015934 (AMR)
Genomes Max Group AF
0.22015934 (AMR)
Linked Data - NCBI & NCI
dbSNP:
10497845
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033174T>C , CM000664.2:g.200033174T>C
GRCh38
NC_000002.11:g.200897897T>C , CM000664.1:g.200897897T>C
GRCh37
NC_000002.10:g.200606142T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22278A>G
Search 100 bp 5'
Search 100 bp 3'