Canonical Allele Identifier: CA710261799
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs1366725106
gnomAD v3: 14-96204922-G-T
gnomAD v4: 14-96204922-G-T
MyVariant Identifiers: chr14:g.96671259G>T (hg19) chr14:g.96204922G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204922G>T , CM000676.2:g.96204922G>T GRCh38
NC_000014.8:g.96671259G>T , CM000676.1:g.96671259G>T GRCh37
NC_000014.7:g.95741012G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-77G>T MANE Select ENSP00000450482.1:n.-77G>T
ENST00000539359.1:c.-319G>T ENSP00000438376.1:n.-319G>T
ENST00000542454.2:c.-2845G>T ENSP00000439459.2:n.-2845G>T
ENST00000553811.1:c.-72G>T ENSP00000450984.1:n.-72G>T
ENST00000554311.1:c.-77G>T ENSP00000450482.1:n.-77G>T
NM_000623.3:c.-72G>T NP_000614.1:n.-72G>T
NM_000623.4:c.-72G>T NP_000614.1:n.-72G>T
NM_001379692.1:c.-77G>T MANE Select NP_001366621.1:n.-77G>T
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