Canonical Allele Identifier: CA615872427

Gene: BDKRB2

Linked Data

• dbSNP Id: rs559188291
• gnomAD v2: 14-96671048-C-T
• gnomAD v3: 14-96204711-C-T
• gnomAD v4: 14-96204711-C-T
• MyVariant Identifiers: chr14:g.96671048C>T (hg19) ; chr14:g.96204711C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000542454.2:c.-3056C>T	ENSP00000439459.2:n.-3056C>T