Canonical Allele Identifier: CA266013102
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs201120207
gnomAD v2: 14-96671319-T-C
gnomAD v3: 14-96204982-T-C
gnomAD v4: 14-96204982-T-C
MyVariant Identifiers: chr14:g.96671319T>C (hg19) chr14:g.96204982T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204982T>C , CM000676.2:g.96204982T>C GRCh38
NC_000014.8:g.96671319T>C , CM000676.1:g.96671319T>C GRCh37
NC_000014.7:g.95741072T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-40+23T>C MANE Select ENSP00000450482.1:n.-40+23T>C
ENST00000539359.1:c.-282+23T>C ENSP00000438376.1:n.-282+23T>C
ENST00000542454.2:c.-2808+23T>C ENSP00000439459.2:n.-2808+23T>C
ENST00000553811.1:c.-35+23T>C ENSP00000450984.1:n.-35+23T>C
ENST00000554311.1:c.-40+23T>C ENSP00000450482.1:n.-40+23T>C
NM_000623.3:c.-35+23T>C NP_000614.1:n.-35+23T>C
NM_000623.4:c.-35+23T>C NP_000614.1:n.-35+23T>C
NM_001379692.1:c.-40+23T>C MANE Select NP_001366621.1:n.-40+23T>C
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