×
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:
CA2647283140
Gene: CASQ2
HGNC
NCBI
Linked Data
gnomAD v4:
1-115732982-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.115732987del , CM000663.2:g.115732987del
GRCh38
NC_000001.10:g.116275608del , CM000663.1:g.116275608del
GRCh37
NC_000001.9:g.116077131del
NCBI36
NG_008802.1:g.40823del , LRG_404:g.40823del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000488931.2:c.257-9del
ENSP00000518226.1:n.257-9del
ENST00000261448.6:c.533-9del
MANE Select
ENSP00000261448.5:n.533-9del
ENST00000261448.5:c.533-9del
ENSP00000261448.5:n.533-9del
NM_001232.3:c.533-9del , LRG_404t1:c.533-9del
NP_001223.2:n.533-9del
NM_001232.4:c.533-9del
MANE Select
NP_001223.2:n.533-9del
Search 100 bp 5'
Search 100 bp 3'