Canonical Allele Identifier: CA615872497

Gene: BDKRB2

Linked Data

• dbSNP Id: rs1239162320
• gnomAD v2: 14-96671211-GGGGAC-G
• gnomAD v4: 14-96204874-GGGGAC-G
• MyVariant Identifiers: chr14:g.96671212_96671216del (hg19) ; chr14:g.96204875_96204879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204877_96204881del , CM000676.2:g.96204877_96204881del	GRCh38
NC_000014.8:g.96671214_96671218del , CM000676.1:g.96671214_96671218del	GRCh37
NC_000014.7:g.95740967_95740971del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-122_-118del MANE Select	ENSP00000450482.1:n.-122_-118del
ENST00000539359.1:c.-364_-360del	ENSP00000438376.1:n.-364_-360del
ENST00000542454.2:c.-2890_-2886del	ENSP00000439459.2:n.-2890_-2886del
ENST00000553811.1:c.-117_-113del	ENSP00000450984.1:n.-117_-113del
ENST00000554311.1:c.-122_-118del	ENSP00000450482.1:n.-122_-118del
NM_000623.3:c.-117_-113del	NP_000614.1:n.-117_-113del
NM_000623.4:c.-117_-113del	NP_000614.1:n.-117_-113del
NM_001379692.1:c.-122_-118del MANE Select	NP_001366621.1:n.-122_-118del