Canonical Allele Identifier: CA7334798
Gene: BDKRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.96204802C>T
GRCh37 chr14:g.96671139C>T
gnomAD v2:
14:96671139 C / T
gnomAD v3:
14:96204802 C / T
gnomAD v4:
chr14-96204802-C-T
Joint Max Group AF 0.47250134 (EAS)
Genomes Max Group AF 0.48064732 (EAS)
Exomes Max Group AF 0.43901269 (EAS)
dbSNP:
1799722
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204802C>T , CM000676.2:g.96204802C>T GRCh38
NC_000014.8:g.96671139C>T , CM000676.1:g.96671139C>T GRCh37
NC_000014.7:g.95740892C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000542454.2:c.-2965C>T ENSP00000439459.2:n.-2965C>T
ENST00000554311.1:c.-197C>T ENSP00000450482.1:n.-197C>T
NM_000623.3:c.-192C>T NP_000614.1:n.-192C>T
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