×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA540055194
Gene:
Linked Data
dbSNP Id:
rs1354350355
gnomAD v2:
2-234504127-AG-A
gnomAD v3:
2-233595481-AG-A
gnomAD v4:
2-233595481-AG-A
MyVariant Identifiers:
chr2:g.234504128del (hg19)
chr2:g.233595482del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233595483del , CM000664.2:g.233595483del
GRCh38
NC_000002.11:g.234504129del , CM000664.1:g.234504129del
GRCh37
NC_000002.10:g.234168868del
NCBI36
NG_002601.2:g.10740del
Search 100 bp 5'
Search 100 bp 3'