Canonical Allele Identifier: CA2626381884
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204819-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204819G>A , CM000676.2:g.96204819G>A GRCh38
NC_000014.8:g.96671156G>A , CM000676.1:g.96671156G>A GRCh37
NC_000014.7:g.95740909G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000542454.2:c.-2948G>A ENSP00000439459.2:n.-2948G>A
ENST00000554311.1:c.-180G>A ENSP00000450482.1:n.-180G>A
NM_000623.3:c.-175G>A NP_000614.1:n.-175G>A
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