Canonical Allele Identifier: CA266013068
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs550410568
gnomAD v2: 14-96671272-G-A
gnomAD v3: 14-96204935-G-A
gnomAD v4: 14-96204935-G-A
MyVariant Identifiers: chr14:g.96671272G>A (hg19) chr14:g.96204935G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204935G>A , CM000676.2:g.96204935G>A GRCh38
NC_000014.8:g.96671272G>A , CM000676.1:g.96671272G>A GRCh37
NC_000014.7:g.95741025G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-64G>A MANE Select ENSP00000450482.1:n.-64G>A
ENST00000539359.1:c.-306G>A ENSP00000438376.1:n.-306G>A
ENST00000542454.2:c.-2832G>A ENSP00000439459.2:n.-2832G>A
ENST00000553811.1:c.-59G>A ENSP00000450984.1:n.-59G>A
ENST00000554311.1:c.-64G>A ENSP00000450482.1:n.-64G>A
NM_000623.3:c.-59G>A NP_000614.1:n.-59G>A
NM_000623.4:c.-59G>A NP_000614.1:n.-59G>A
NM_001379692.1:c.-64G>A MANE Select NP_001366621.1:n.-64G>A
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