Canonical Allele Identifier: CA14071365
Gene: BDKRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.96241886T>C
GRCh37 chr14:g.96708223T>C
gnomAD v2:
14:96708223 T / C
gnomAD v3:
14:96241886 T / C
gnomAD v4:
chr14-96241886-T-C
Joint Max Group AF 0.10512278 (NFE)
Genomes Max Group AF 0.10602358 (NFE)
Exomes Max Group AF 0.09854815 (NFE)
dbSNP:
5225
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96241886T>C , CM000676.2:g.96241886T>C GRCh38
NC_000014.8:g.96708223T>C , CM000676.1:g.96708223T>C GRCh37
NC_000014.7:g.95777976T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.*382T>C MANE Select ENSP00000450482.1:n.*382T>C
ENST00000542454.2:c.*382T>C ENSP00000439459.2:n.*382T>C
ENST00000553811.1:c.74+4705T>C ENSP00000450984.1:n.74+4705T>C
ENST00000554311.1:c.*382T>C ENSP00000450482.1:n.*382T>C
NM_000623.3:c.*382T>C NP_000614.1:n.*382T>C
NM_000623.4:c.*382T>C NP_000614.1:n.*382T>C
NM_001379692.1:c.*382T>C MANE Select NP_001366621.1:n.*382T>C
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