ClinGen Allele Registry
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Canonical Allele Identifier:
CA763204517
Gene:
Linked Data
dbSNP Id:
rs1362774887
gnomAD v3:
2-200033124-G-C
gnomAD v4:
2-200033124-G-C
MyVariant Identifiers:
chr2:g.200897847G>C (hg19)
chr2:g.200033124G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033124G>C , CM000664.2:g.200033124G>C
GRCh38
NC_000002.11:g.200897847G>C , CM000664.1:g.200897847G>C
GRCh37
NC_000002.10:g.200606092G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22228C>G
Search 100 bp 5'
Search 100 bp 3'