Canonical Allele Identifier: CA615872424
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs1294203416
gnomAD v2: 14-96671039-CA-C
gnomAD v3: 14-96204702-CA-C
gnomAD v4: 14-96204702-CA-C
MyVariant Identifiers: chr14:g.96671040del (hg19) chr14:g.96204703del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204703del , CM000676.2:g.96204703del GRCh38
NC_000014.8:g.96671040del , CM000676.1:g.96671040del GRCh37
NC_000014.7:g.95740793del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000542454.2:c.-3064del ENSP00000439459.2:n.-3064del
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