Canonical Allele Identifier: CA2626381996
Gene: BDKRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204885_96204886del , CM000676.2:g.96204885_96204886del GRCh38
NC_000014.8:g.96671222_96671223del , CM000676.1:g.96671222_96671223del GRCh37
NC_000014.7:g.95740975_95740976del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-114_-113del MANE Select ENSP00000450482.1:n.-114_-113del
ENST00000539359.1:c.-356_-355del ENSP00000438376.1:n.-356_-355del
ENST00000542454.2:c.-2882_-2881del ENSP00000439459.2:n.-2882_-2881del
ENST00000553811.1:c.-109_-108del ENSP00000450984.1:n.-109_-108del
ENST00000554311.1:c.-114_-113del ENSP00000450482.1:n.-114_-113del
NM_000623.3:c.-109_-108del NP_000614.1:n.-109_-108del
NM_000623.4:c.-109_-108del NP_000614.1:n.-109_-108del
NM_001379692.1:c.-114_-113del MANE Select NP_001366621.1:n.-114_-113del