ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA64382900
Gene:
Linked Data
dbSNP Id:
rs1022522989
gnomAD v2:
2-200897932-T-C
gnomAD v3:
2-200033209-T-C
gnomAD v4:
2-200033209-T-C
MyVariant Identifiers:
chr2:g.200897932T>C (hg19)
chr2:g.200033209T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033209T>C , CM000664.2:g.200033209T>C
GRCh38
NC_000002.11:g.200897932T>C , CM000664.1:g.200897932T>C
GRCh37
NC_000002.10:g.200606177T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22313A>G
Search 100 bp 5'
Search 100 bp 3'