ClinGen Allele Registry
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Canonical Allele Identifier:
CA531234621
Gene:
Linked Data
dbSNP Id:
rs1203778053
gnomAD v2:
2-16639635-T-C
gnomAD v3:
2-16458367-T-C
gnomAD v4:
2-16458367-T-C
MyVariant Identifiers:
chr2:g.16639635T>C (hg19)
chr2:g.16458367T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458367T>C , CM000664.2:g.16458367T>C
GRCh38
NC_000002.11:g.16639635T>C , CM000664.1:g.16639635T>C
GRCh37
NC_000002.10:g.16503116T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3273A>G
Search 100 bp 5'
Search 100 bp 3'