Canonical Allele Identifier: CA10628018

Gene: BPNT2

Linked Data

• ClinVar Variation Id: 363347
• ClinVar RCV Id: RCV000304464
• dbSNP Id: rs751680074
• gnomAD v2: 8-57872533-AAGAC-A
• gnomAD v3: 8-56959974-AAGAC-A
• gnomAD v4: 8-56959974-AAGAC-A
• MyVariant Identifiers: chr8:g.57872534_57872537del (hg19) ; chr8:g.56959975_56959978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56959979_56959982del , CM000670.2:g.56959979_56959982del	GRCh38
NC_000008.10:g.57872538_57872541del , CM000670.1:g.57872538_57872541del	GRCh37
NC_000008.9:g.58035092_58035095del	NCBI36
NG_031926.1:g.38894_38897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262644.9:c.*3815_*3818del MANE Select	ENSP00000262644.4:n.*3815_*3818del
ENST00000262644.8:c.*3815_*3818del	ENSP00000262644.4:n.*3815_*3818del
NM_017813.4:c.*3815_*3818del	NP_060283.3:n.*3815_*3818del
XR_928786.2:n.5293_5296del
NM_017813.5:c.*3815_*3818del MANE Select	NP_060283.3:n.*3815_*3818del