Canonical Allele Identifier: CA7334808
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs761899035
ExAC: 14:96671215 ACGGTGG / A
gnomAD v2: 14-96671215-ACGGTGG-A
gnomAD v4: 14-96204878-ACGGTGG-A
MyVariant Identifiers: chr14:g.96671216_96671221del (hg19) chr14:g.96204879_96204884del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204879_96204884del , CM000676.2:g.96204879_96204884del GRCh38
NC_000014.8:g.96671216_96671221del , CM000676.1:g.96671216_96671221del GRCh37
NC_000014.7:g.95740969_95740974del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-120_-115del MANE Select ENSP00000450482.1:n.-120_-115del
ENST00000539359.1:c.-362_-357del ENSP00000438376.1:n.-362_-357del
ENST00000542454.2:c.-2888_-2883del ENSP00000439459.2:n.-2888_-2883del
ENST00000553811.1:c.-115_-110del ENSP00000450984.1:n.-115_-110del
ENST00000554311.1:c.-120_-115del ENSP00000450482.1:n.-120_-115del
NM_000623.3:c.-115_-110del NP_000614.1:n.-115_-110del
NM_000623.4:c.-115_-110del NP_000614.1:n.-115_-110del
NM_001379692.1:c.-120_-115del MANE Select NP_001366621.1:n.-120_-115del
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