Canonical Allele Identifier: CA7334804

Gene: BDKRB2

Linked Data

• dbSNP Id: rs71103505
• ExAC: 14:96671207 GGGTGGGGAC / G
• gnomAD v2: 14-96671207-GGGTGGGGAC-G
• gnomAD v3: 14-96204870-GGGTGGGGAC-G
• gnomAD v4: 14-96204870-GGGTGGGGAC-G
• MyVariant Identifiers: chr14:g.96671208_96671216del (hg19) ; chr14:g.96204871_96204879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204889_96204897del , CM000676.2:g.96204889_96204897del	GRCh38
NC_000014.8:g.96671226_96671234del , CM000676.1:g.96671226_96671234del	GRCh37
NC_000014.7:g.95740979_95740987del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-110_-102del MANE Select	ENSP00000450482.1:n.-110_-102del
ENST00000539359.1:c.-352_-344del	ENSP00000438376.1:n.-352_-344del
ENST00000542454.2:c.-2878_-2870del	ENSP00000439459.2:n.-2878_-2870del
ENST00000553811.1:c.-105_-97del	ENSP00000450984.1:n.-105_-97del
ENST00000554311.1:c.-110_-102del	ENSP00000450482.1:n.-110_-102del
NM_000623.3:c.-105_-97del	NP_000614.1:n.-105_-97del
NM_000623.4:c.-105_-97del	NP_000614.1:n.-105_-97del
NM_001379692.1:c.-110_-102del MANE Select	NP_001366621.1:n.-110_-102del