Canonical Allele Identifier: CA615872425

Gene: BDKRB2

Linked Data

• dbSNP Id: rs1228522723
• gnomAD v2: 14-96671045-T-TC
• gnomAD v3: 14-96204708-T-TC
• gnomAD v4: 14-96204708-T-TC
• MyVariant Identifiers: chr14:g.96671045_96671046insC (hg19) ; chr14:g.96204708_96204709insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204711dup , CM000676.2:g.96204711dup	GRCh38
NC_000014.8:g.96671048dup , CM000676.1:g.96671048dup	GRCh37
NC_000014.7:g.95740801dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000542454.2:c.-3056dup	ENSP00000439459.2:n.-3056dup