ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA531234592
Gene:
Linked Data
dbSNP Id:
rs1479332076
gnomAD v2:
2-16639457-A-G
gnomAD v3:
2-16458189-A-G
gnomAD v4:
2-16458189-A-G
MyVariant Identifiers:
chr2:g.16639457A>G (hg19)
chr2:g.16458189A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458189A>G , CM000664.2:g.16458189A>G
GRCh38
NC_000002.11:g.16639457A>G , CM000664.1:g.16639457A>G
GRCh37
NC_000002.10:g.16502938A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3095T>C
Search 100 bp 5'
Search 100 bp 3'