Canonical Allele Identifier: CA615872561

Gene: BDKRB2

Linked Data

• dbSNP Id: rs1204676558
• gnomAD v2: 14-96671363-AGAGG-A
• gnomAD v3: 14-96205026-AGAGG-A
• gnomAD v4: 14-96205026-AGAGG-A
• COSMIC: COSN23294769
• MyVariant Identifiers: chr14:g.96671364_96671367del (hg19) ; chr14:g.96205027_96205030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96205040_96205043del , CM000676.2:g.96205040_96205043del	GRCh38
NC_000014.8:g.96671377_96671380del , CM000676.1:g.96671377_96671380del	GRCh37
NC_000014.7:g.95741130_95741133del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-40+81_-40+84del MANE Select	ENSP00000450482.1:n.-40+81_-40+84del
ENST00000539359.1:c.-282+81_-282+84del	ENSP00000438376.1:n.-282+81_-282+84del
ENST00000542454.2:c.-2808+81_-2808+84del	ENSP00000439459.2:n.-2808+81_-2808+84del
ENST00000553811.1:c.-35+81_-35+84del	ENSP00000450984.1:n.-35+81_-35+84del
ENST00000554311.1:c.-40+81_-40+84del	ENSP00000450482.1:n.-40+81_-40+84del
NM_000623.3:c.-35+81_-35+84del	NP_000614.1:n.-35+81_-35+84del
NM_000623.4:c.-35+81_-35+84del	NP_000614.1:n.-35+81_-35+84del
NM_001379692.1:c.-40+81_-40+84del MANE Select	NP_001366621.1:n.-40+81_-40+84del