Canonical Allele Identifier: CA2626381913
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204839-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204839A>C , CM000676.2:g.96204839A>C GRCh38
NC_000014.8:g.96671176A>C , CM000676.1:g.96671176A>C GRCh37
NC_000014.7:g.95740929A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-160A>C MANE Select ENSP00000450482.1:n.-160A>C
ENST00000539359.1:c.-402A>C ENSP00000438376.1:n.-402A>C
ENST00000542454.2:c.-2928A>C ENSP00000439459.2:n.-2928A>C
ENST00000554311.1:c.-160A>C ENSP00000450482.1:n.-160A>C
NM_000623.3:c.-155A>C NP_000614.1:n.-155A>C
NM_000623.4:c.-155A>C NP_000614.1:n.-155A>C
NM_001379692.1:c.-160A>C MANE Select NP_001366621.1:n.-160A>C
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