Canonical Allele Identifier: CA966266179
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs1890140099
gnomAD v3: 14-96204997-T-A
gnomAD v4: 14-96204997-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204997T>A , CM000676.2:g.96204997T>A GRCh38
NC_000014.8:g.96671334T>A , CM000676.1:g.96671334T>A GRCh37
NC_000014.7:g.95741087T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-40+38T>A MANE Select ENSP00000450482.1:n.-40+38T>A
ENST00000539359.1:c.-282+38T>A ENSP00000438376.1:n.-282+38T>A
ENST00000542454.2:c.-2808+38T>A ENSP00000439459.2:n.-2808+38T>A
ENST00000553811.1:c.-35+38T>A ENSP00000450984.1:n.-35+38T>A
ENST00000554311.1:c.-40+38T>A ENSP00000450482.1:n.-40+38T>A
NM_000623.3:c.-35+38T>A NP_000614.1:n.-35+38T>A
NM_000623.4:c.-35+38T>A NP_000614.1:n.-35+38T>A
NM_001379692.1:c.-40+38T>A MANE Select NP_001366621.1:n.-40+38T>A
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