Canonical Allele Identifier: CA266013063
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs1030933703
gnomAD v2: 14-96671262-C-G
gnomAD v3: 14-96204925-C-G
gnomAD v4: 14-96204925-C-G
MyVariant Identifiers: chr14:g.96671262C>G (hg19) chr14:g.96204925C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204925C>G , CM000676.2:g.96204925C>G GRCh38
NC_000014.8:g.96671262C>G , CM000676.1:g.96671262C>G GRCh37
NC_000014.7:g.95741015C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-74C>G MANE Select ENSP00000450482.1:n.-74C>G
ENST00000539359.1:c.-316C>G ENSP00000438376.1:n.-316C>G
ENST00000542454.2:c.-2842C>G ENSP00000439459.2:n.-2842C>G
ENST00000553811.1:c.-69C>G ENSP00000450984.1:n.-69C>G
ENST00000554311.1:c.-74C>G ENSP00000450482.1:n.-74C>G
NM_000623.3:c.-69C>G NP_000614.1:n.-69C>G
NM_000623.4:c.-69C>G NP_000614.1:n.-69C>G
NM_001379692.1:c.-74C>G MANE Select NP_001366621.1:n.-74C>G
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