Canonical Allele Identifier: CA7334807
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs776581787
ExAC: 14:96671210 TGGGG / T
gnomAD v2: 14-96671210-TGGGG-T
gnomAD v3: 14-96204873-TGGGG-T
gnomAD v4: 14-96204873-TGGGG-T
MyVariant Identifiers: chr14:g.96671211_96671214del (hg19) chr14:g.96671211_96671216delinsAC (hg19) chr14:g.96204874_96204877del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204874_96204877del , CM000676.2:g.96204874_96204877del GRCh38
NC_000014.8:g.96671211_96671214del , CM000676.1:g.96671211_96671214del GRCh37
NC_000014.7:g.95740964_95740967del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-125_-122del MANE Select ENSP00000450482.1:n.-125_-122del
ENST00000539359.1:c.-367_-364del ENSP00000438376.1:n.-367_-364del
ENST00000542454.2:c.-2893_-2890del ENSP00000439459.2:n.-2893_-2890del
ENST00000553811.1:c.-120_-117del ENSP00000450984.1:n.-120_-117del
ENST00000554311.1:c.-125_-122del ENSP00000450482.1:n.-125_-122del
NM_000623.3:c.-120_-117del NP_000614.1:n.-120_-117del
NM_000623.4:c.-120_-117del NP_000614.1:n.-120_-117del
NM_001379692.1:c.-125_-122del MANE Select NP_001366621.1:n.-125_-122del
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