Canonical Allele Identifier: CA966266065

Gene: BDKRB2

Linked Data

• dbSNP Id: rs1184705016
• gnomAD v3: 14-96204860-C-T
• gnomAD v4: 14-96204860-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204860C>T , CM000676.2:g.96204860C>T	GRCh38
NC_000014.8:g.96671197C>T , CM000676.1:g.96671197C>T	GRCh37
NC_000014.7:g.95740950C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-139C>T MANE Select	ENSP00000450482.1:n.-139C>T
ENST00000539359.1:c.-381C>T	ENSP00000438376.1:n.-381C>T
ENST00000542454.2:c.-2907C>T	ENSP00000439459.2:n.-2907C>T
ENST00000553811.1:c.-134C>T	ENSP00000450984.1:n.-134C>T
ENST00000554311.1:c.-139C>T	ENSP00000450482.1:n.-139C>T
NM_000623.3:c.-134C>T	NP_000614.1:n.-134C>T
NM_000623.4:c.-134C>T	NP_000614.1:n.-134C>T
NM_001379692.1:c.-139C>T MANE Select	NP_001366621.1:n.-139C>T