Canonical Allele Identifier: CA2626381992
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204881-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204881G>A , CM000676.2:g.96204881G>A GRCh38
NC_000014.8:g.96671218G>A , CM000676.1:g.96671218G>A GRCh37
NC_000014.7:g.95740971G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-118G>A MANE Select ENSP00000450482.1:n.-118G>A
ENST00000539359.1:c.-360G>A ENSP00000438376.1:n.-360G>A
ENST00000542454.2:c.-2886G>A ENSP00000439459.2:n.-2886G>A
ENST00000553811.1:c.-113G>A ENSP00000450984.1:n.-113G>A
ENST00000554311.1:c.-118G>A ENSP00000450482.1:n.-118G>A
NM_000623.3:c.-113G>A NP_000614.1:n.-113G>A
NM_000623.4:c.-113G>A NP_000614.1:n.-113G>A
NM_001379692.1:c.-118G>A MANE Select NP_001366621.1:n.-118G>A
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