Canonical Allele Identifier: CA615872508

Gene: BDKRB2

Linked Data

• dbSNP Id: rs1566685364
• gnomAD v2: 14-96671219-TGGGGAC-T
• gnomAD v3: 14-96204882-TGGGGAC-T
• gnomAD v4: 14-96204882-TGGGGAC-T
• MyVariant Identifiers: chr14:g.96671220_96671225del (hg19) ; chr14:g.96204883_96204888del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204885_96204890del , CM000676.2:g.96204885_96204890del	GRCh38
NC_000014.8:g.96671222_96671227del , CM000676.1:g.96671222_96671227del	GRCh37
NC_000014.7:g.95740975_95740980del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-114_-109del MANE Select	ENSP00000450482.1:n.-114_-109del
ENST00000539359.1:c.-356_-351del	ENSP00000438376.1:n.-356_-351del
ENST00000542454.2:c.-2882_-2877del	ENSP00000439459.2:n.-2882_-2877del
ENST00000553811.1:c.-109_-104del	ENSP00000450984.1:n.-109_-104del
ENST00000554311.1:c.-114_-109del	ENSP00000450482.1:n.-114_-109del
NM_000623.3:c.-109_-104del	NP_000614.1:n.-109_-104del
NM_000623.4:c.-109_-104del	NP_000614.1:n.-109_-104del
NM_001379692.1:c.-114_-109del MANE Select	NP_001366621.1:n.-114_-109del