Canonical Allele Identifier: CA2626382116
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204999-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204999T>G , CM000676.2:g.96204999T>G GRCh38
NC_000014.8:g.96671336T>G , CM000676.1:g.96671336T>G GRCh37
NC_000014.7:g.95741089T>G NCBI36

Transcript Alleles

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