Canonical Allele Identifier: CA2626382070
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204939-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204939A>G , CM000676.2:g.96204939A>G GRCh38
NC_000014.8:g.96671276A>G , CM000676.1:g.96671276A>G GRCh37
NC_000014.7:g.95741029A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-60A>G MANE Select ENSP00000450482.1:n.-60A>G
ENST00000539359.1:c.-302A>G ENSP00000438376.1:n.-302A>G
ENST00000542454.2:c.-2828A>G ENSP00000439459.2:n.-2828A>G
ENST00000553811.1:c.-55A>G ENSP00000450984.1:n.-55A>G
ENST00000554311.1:c.-60A>G ENSP00000450482.1:n.-60A>G
NM_000623.3:c.-55A>G NP_000614.1:n.-55A>G
NM_000623.4:c.-55A>G NP_000614.1:n.-55A>G
NM_001379692.1:c.-60A>G MANE Select NP_001366621.1:n.-60A>G
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