Canonical Allele Identifier: CA2802711458

Gene: BDKRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96205025C>T , CM000676.2:g.96205025C>T	GRCh38
NC_000014.8:g.96671362C>T , CM000676.1:g.96671362C>T	GRCh37
NC_000014.7:g.95741115C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-40+66C>T MANE Select	ENSP00000450482.1:n.-40+66C>T
ENST00000539359.1:c.-282+66C>T	ENSP00000438376.1:n.-282+66C>T
ENST00000542454.2:c.-2808+66C>T	ENSP00000439459.2:n.-2808+66C>T
ENST00000553811.1:c.-35+66C>T	ENSP00000450984.1:n.-35+66C>T
ENST00000554311.1:c.-40+66C>T	ENSP00000450482.1:n.-40+66C>T
NM_000623.3:c.-35+66C>T	NP_000614.1:n.-35+66C>T
NM_000623.4:c.-35+66C>T	NP_000614.1:n.-35+66C>T
NM_001379692.1:c.-40+66C>T MANE Select	NP_001366621.1:n.-40+66C>T