Canonical Allele Identifier: CA266012909
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs200948450
gnomAD v4: 14-96204878-A-G
MyVariant Identifiers: chr14:g.96671215A>G (hg19) chr14:g.96204878A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204878A>G , CM000676.2:g.96204878A>G GRCh38
NC_000014.8:g.96671215A>G , CM000676.1:g.96671215A>G GRCh37
NC_000014.7:g.95740968A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-121A>G MANE Select ENSP00000450482.1:n.-121A>G
ENST00000539359.1:c.-363A>G ENSP00000438376.1:n.-363A>G
ENST00000542454.2:c.-2889A>G ENSP00000439459.2:n.-2889A>G
ENST00000553811.1:c.-116A>G ENSP00000450984.1:n.-116A>G
ENST00000554311.1:c.-121A>G ENSP00000450482.1:n.-121A>G
NM_000623.3:c.-116A>G NP_000614.1:n.-116A>G
NM_000623.4:c.-116A>G NP_000614.1:n.-116A>G
NM_001379692.1:c.-121A>G MANE Select NP_001366621.1:n.-121A>G
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