Canonical Allele Identifier: CA2598539572
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v3: 14-96205006-A-T
gnomAD v4: 14-96205006-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96205006A>T , CM000676.2:g.96205006A>T GRCh38
NC_000014.8:g.96671343A>T , CM000676.1:g.96671343A>T GRCh37
NC_000014.7:g.95741096A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-40+47A>T MANE Select ENSP00000450482.1:n.-40+47A>T
ENST00000539359.1:c.-282+47A>T ENSP00000438376.1:n.-282+47A>T
ENST00000542454.2:c.-2808+47A>T ENSP00000439459.2:n.-2808+47A>T
ENST00000553811.1:c.-35+47A>T ENSP00000450984.1:n.-35+47A>T
ENST00000554311.1:c.-40+47A>T ENSP00000450482.1:n.-40+47A>T
NM_000623.3:c.-35+47A>T NP_000614.1:n.-35+47A>T
NM_000623.4:c.-35+47A>T NP_000614.1:n.-35+47A>T
NM_001379692.1:c.-40+47A>T MANE Select NP_001366621.1:n.-40+47A>T
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