Canonical Allele Identifier: CA2626381929

Gene: BDKRB2

Linked Data

• gnomAD v4: 14-96204846-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204846C>T , CM000676.2:g.96204846C>T	GRCh38
NC_000014.8:g.96671183C>T , CM000676.1:g.96671183C>T	GRCh37
NC_000014.7:g.95740936C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-153C>T MANE Select	ENSP00000450482.1:n.-153C>T
ENST00000539359.1:c.-395C>T	ENSP00000438376.1:n.-395C>T
ENST00000542454.2:c.-2921C>T	ENSP00000439459.2:n.-2921C>T
ENST00000553811.1:c.-148C>T	ENSP00000450984.1:n.-148C>T
ENST00000554311.1:c.-153C>T	ENSP00000450482.1:n.-153C>T
NM_000623.3:c.-148C>T	NP_000614.1:n.-148C>T
NM_000623.4:c.-148C>T	NP_000614.1:n.-148C>T
NM_001379692.1:c.-153C>T MANE Select	NP_001366621.1:n.-153C>T