Canonical Allele Identifier: CA7334813

Gene: BDKRB2

Linked Data

• dbSNP Id: rs200885259
• ExAC: 14:96671230 G / A
• gnomAD v2: 14-96671230-G-A
• gnomAD v3: 14-96204893-G-A
• gnomAD v4: 14-96204893-G-A
• MyVariant Identifiers: chr14:g.96671230G>A (hg19) ; chr14:g.96204893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204893G>A , CM000676.2:g.96204893G>A	GRCh38
NC_000014.8:g.96671230G>A , CM000676.1:g.96671230G>A	GRCh37
NC_000014.7:g.95740983G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-106G>A MANE Select	ENSP00000450482.1:n.-106G>A
ENST00000539359.1:c.-348G>A	ENSP00000438376.1:n.-348G>A
ENST00000542454.2:c.-2874G>A	ENSP00000439459.2:n.-2874G>A
ENST00000553811.1:c.-101G>A	ENSP00000450984.1:n.-101G>A
ENST00000554311.1:c.-106G>A	ENSP00000450482.1:n.-106G>A
NM_000623.3:c.-101G>A	NP_000614.1:n.-101G>A
NM_000623.4:c.-101G>A	NP_000614.1:n.-101G>A
NM_001379692.1:c.-106G>A MANE Select	NP_001366621.1:n.-106G>A