ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA532872817
Gene:
Linked Data
dbSNP Id:
rs1421125740
gnomAD v2:
2-52949258-G-A
gnomAD v3:
2-52722120-G-A
gnomAD v4:
2-52722120-G-A
MyVariant Identifiers:
chr2:g.52949258G>A (hg19)
chr2:g.52722120G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.52722120G>A , CM000664.2:g.52722120G>A
GRCh38
NC_000002.11:g.52949258G>A , CM000664.1:g.52949258G>A
GRCh37
NC_000002.10:g.52802762G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959384.1:n.1137C>T
Search 100 bp 5'
Search 100 bp 3'