Canonical Allele Identifier: CA2626382060
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204929-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204929T>G , CM000676.2:g.96204929T>G GRCh38
NC_000014.8:g.96671266T>G , CM000676.1:g.96671266T>G GRCh37
NC_000014.7:g.95741019T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-70T>G MANE Select ENSP00000450482.1:n.-70T>G
ENST00000539359.1:c.-312T>G ENSP00000438376.1:n.-312T>G
ENST00000542454.2:c.-2838T>G ENSP00000439459.2:n.-2838T>G
ENST00000553811.1:c.-65T>G ENSP00000450984.1:n.-65T>G
ENST00000554311.1:c.-70T>G ENSP00000450482.1:n.-70T>G
NM_000623.3:c.-65T>G NP_000614.1:n.-65T>G
NM_000623.4:c.-65T>G NP_000614.1:n.-65T>G
NM_001379692.1:c.-70T>G MANE Select NP_001366621.1:n.-70T>G
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