Canonical Allele Identifier: CA615872476

Gene: BDKRB2

Linked Data

• dbSNP Id: rs1455443628
• gnomAD v2: 14-96671182-G-A
• gnomAD v4: 14-96204845-G-A
• MyVariant Identifiers: chr14:g.96671182G>A (hg19) ; chr14:g.96204845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204845G>A , CM000676.2:g.96204845G>A	GRCh38
NC_000014.8:g.96671182G>A , CM000676.1:g.96671182G>A	GRCh37
NC_000014.7:g.95740935G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-154G>A MANE Select	ENSP00000450482.1:n.-154G>A
ENST00000539359.1:c.-396G>A	ENSP00000438376.1:n.-396G>A
ENST00000542454.2:c.-2922G>A	ENSP00000439459.2:n.-2922G>A
ENST00000553811.1:c.-149G>A	ENSP00000450984.1:n.-149G>A
ENST00000554311.1:c.-154G>A	ENSP00000450482.1:n.-154G>A
NM_000623.3:c.-149G>A	NP_000614.1:n.-149G>A
NM_000623.4:c.-149G>A	NP_000614.1:n.-149G>A
NM_001379692.1:c.-154G>A MANE Select	NP_001366621.1:n.-154G>A