Canonical Allele Identifier: CA615872493
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs71103505
gnomAD v2: 14-96671207-G-GGGTGGGGAC
gnomAD v3: 14-96204870-G-GGGTGGGGAC
gnomAD v4: 14-96204870-G-GGGTGGGGAC
MyVariant Identifiers: chr14:g.96671216_96671217insGGTGGGGAC (hg19) chr14:g.96671207_96671208insGGTGGGGAC (hg19) chr14:g.96204879_96204880insGGTGGGGAC (hg38) chr14:g.96204870_96204871insGGTGGGGAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204889_96204897dup , CM000676.2:g.96204889_96204897dup GRCh38
NC_000014.8:g.96671226_96671234dup , CM000676.1:g.96671226_96671234dup GRCh37
NC_000014.7:g.95740979_95740987dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-110_-102dup MANE Select ENSP00000450482.1:n.-110_-102dup
ENST00000539359.1:c.-352_-344dup ENSP00000438376.1:n.-352_-344dup
ENST00000542454.2:c.-2878_-2870dup ENSP00000439459.2:n.-2878_-2870dup
ENST00000553811.1:c.-105_-97dup ENSP00000450984.1:n.-105_-97dup
ENST00000554311.1:c.-110_-102dup ENSP00000450482.1:n.-110_-102dup
NM_000623.3:c.-105_-97dup NP_000614.1:n.-105_-97dup
NM_000623.4:c.-105_-97dup NP_000614.1:n.-105_-97dup
NM_001379692.1:c.-110_-102dup MANE Select NP_001366621.1:n.-110_-102dup
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