Canonical Allele Identifier: CA266012854

Gene: BDKRB2

Linked Data

• dbSNP Id: rs200076358
• gnomAD v3: 14-96204855-C-G
• gnomAD v4: 14-96204855-C-G
• MyVariant Identifiers: chr14:g.96671192C>G (hg19) ; chr14:g.96204855C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204855C>G , CM000676.2:g.96204855C>G	GRCh38
NC_000014.8:g.96671192C>G , CM000676.1:g.96671192C>G	GRCh37
NC_000014.7:g.95740945C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-144C>G MANE Select	ENSP00000450482.1:n.-144C>G
ENST00000539359.1:c.-386C>G	ENSP00000438376.1:n.-386C>G
ENST00000542454.2:c.-2912C>G	ENSP00000439459.2:n.-2912C>G
ENST00000553811.1:c.-139C>G	ENSP00000450984.1:n.-139C>G
ENST00000554311.1:c.-144C>G	ENSP00000450482.1:n.-144C>G
NM_000623.3:c.-139C>G	NP_000614.1:n.-139C>G
NM_000623.4:c.-139C>G	NP_000614.1:n.-139C>G
NM_001379692.1:c.-144C>G MANE Select	NP_001366621.1:n.-144C>G