Canonical Allele Identifier: CA2626381889
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204822-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204822G>T , CM000676.2:g.96204822G>T GRCh38
NC_000014.8:g.96671159G>T , CM000676.1:g.96671159G>T GRCh37
NC_000014.7:g.95740912G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000542454.2:c.-2945G>T ENSP00000439459.2:n.-2945G>T
ENST00000554311.1:c.-177G>T ENSP00000450482.1:n.-177G>T
NM_000623.3:c.-172G>T NP_000614.1:n.-172G>T
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