Canonical Allele Identifier: CA10631316
Gene: BPNT2 HGNC NCBI
gnomAD v2:
8:57874026 ATAT / A
gnomAD v3:
8:56961467 ATAT / A
gnomAD v4:
chr8-56961467-ATAT-A
Joint Max Group AF 0.00212282 (NFE)
Genomes Max Group AF 0.00212282 (NFE)
ClinVar Allele:
314789
ClinVar RCV:
RCV000397618
ClinVar Variation:
363366
dbSNP:
550189601
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56961471_56961473del , CM000670.2:g.56961471_56961473del GRCh38
NC_000008.10:g.57874030_57874032del , CM000670.1:g.57874030_57874032del GRCh37
NC_000008.9:g.58036584_58036586del NCBI36
NG_031926.1:g.37402_37404del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262644.9:c.*2323_*2325del MANE Select ENSP00000262644.4:n.*2323_*2325del
ENST00000262644.8:c.*2323_*2325del ENSP00000262644.4:n.*2323_*2325del
NM_017813.4:c.*2323_*2325del NP_060283.3:n.*2323_*2325del
XR_928786.2:n.3801_3803del
NM_017813.5:c.*2323_*2325del MANE Select NP_060283.3:n.*2323_*2325del
Search 100 bp 5'
Search 100 bp 3'