Canonical Allele Identifier: CA710261884

Gene: BDKRB2

Linked Data

• dbSNP Id: rs1269970842
• MyVariant Identifiers: chr14:g.96671349_96671350insACTGTCCC (hg19) ; chr14:g.96205012_96205013insACTGTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96205014_96205021dup , CM000676.2:g.96205014_96205021dup	GRCh38
NC_000014.8:g.96671351_96671358dup , CM000676.1:g.96671351_96671358dup	GRCh37
NC_000014.7:g.95741104_95741111dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-40+55_-40+62dup MANE Select	ENSP00000450482.1:n.-40+55_-40+62dup
ENST00000539359.1:c.-282+55_-282+62dup	ENSP00000438376.1:n.-282+55_-282+62dup
ENST00000542454.2:c.-2808+55_-2808+62dup	ENSP00000439459.2:n.-2808+55_-2808+62dup
ENST00000553811.1:c.-35+55_-35+62dup	ENSP00000450984.1:n.-35+55_-35+62dup
ENST00000554311.1:c.-40+55_-40+62dup	ENSP00000450482.1:n.-40+55_-40+62dup
NM_000623.3:c.-35+55_-35+62dup	NP_000614.1:n.-35+55_-35+62dup
NM_000623.4:c.-35+55_-35+62dup	NP_000614.1:n.-35+55_-35+62dup
NM_001379692.1:c.-40+55_-40+62dup MANE Select	NP_001366621.1:n.-40+55_-40+62dup