Canonical Allele Identifier: CA266013045
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs201777442
gnomAD v2: 14-96671255-C-A
gnomAD v3: 14-96204918-C-A
gnomAD v4: 14-96204918-C-A
MyVariant Identifiers: chr14:g.96671255C>A (hg19) chr14:g.96204918C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204918C>A , CM000676.2:g.96204918C>A GRCh38
NC_000014.8:g.96671255C>A , CM000676.1:g.96671255C>A GRCh37
NC_000014.7:g.95741008C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-81C>A MANE Select ENSP00000450482.1:n.-81C>A
ENST00000539359.1:c.-323C>A ENSP00000438376.1:n.-323C>A
ENST00000542454.2:c.-2849C>A ENSP00000439459.2:n.-2849C>A
ENST00000553811.1:c.-76C>A ENSP00000450984.1:n.-76C>A
ENST00000554311.1:c.-81C>A ENSP00000450482.1:n.-81C>A
NM_000623.3:c.-76C>A NP_000614.1:n.-76C>A
NM_000623.4:c.-76C>A NP_000614.1:n.-76C>A
NM_001379692.1:c.-81C>A MANE Select NP_001366621.1:n.-81C>A
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