Canonical Allele Identifier: CA2626382072
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204942-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204942C>A , CM000676.2:g.96204942C>A GRCh38
NC_000014.8:g.96671279C>A , CM000676.1:g.96671279C>A GRCh37
NC_000014.7:g.95741032C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-57C>A MANE Select ENSP00000450482.1:n.-57C>A
ENST00000539359.1:c.-299C>A ENSP00000438376.1:n.-299C>A
ENST00000542454.2:c.-2825C>A ENSP00000439459.2:n.-2825C>A
ENST00000553811.1:c.-52C>A ENSP00000450984.1:n.-52C>A
ENST00000554311.1:c.-57C>A ENSP00000450482.1:n.-57C>A
NM_000623.3:c.-52C>A NP_000614.1:n.-52C>A
NM_000623.4:c.-52C>A NP_000614.1:n.-52C>A
NM_001379692.1:c.-57C>A MANE Select NP_001366621.1:n.-57C>A
Search 100 bp 5'
Search 100 bp 3'