Canonical Allele Identifier: CA2626381917
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204841-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204841T>C , CM000676.2:g.96204841T>C GRCh38
NC_000014.8:g.96671178T>C , CM000676.1:g.96671178T>C GRCh37
NC_000014.7:g.95740931T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-158T>C MANE Select ENSP00000450482.1:n.-158T>C
ENST00000539359.1:c.-400T>C ENSP00000438376.1:n.-400T>C
ENST00000542454.2:c.-2926T>C ENSP00000439459.2:n.-2926T>C
ENST00000554311.1:c.-158T>C ENSP00000450482.1:n.-158T>C
NM_000623.3:c.-153T>C NP_000614.1:n.-153T>C
NM_000623.4:c.-153T>C NP_000614.1:n.-153T>C
NM_001379692.1:c.-158T>C MANE Select NP_001366621.1:n.-158T>C
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