Canonical Allele Identifier: CA266012819
Gene: BDKRB2 HGNC NCBI

Linked Data

dbSNP Id: rs1046892216
gnomAD v4: 14-96204829-T-C
MyVariant Identifiers: chr14:g.96671166T>C (hg19) chr14:g.96204829T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204829T>C , CM000676.2:g.96204829T>C GRCh38
NC_000014.8:g.96671166T>C , CM000676.1:g.96671166T>C GRCh37
NC_000014.7:g.95740919T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000542454.2:c.-2938T>C ENSP00000439459.2:n.-2938T>C
ENST00000554311.1:c.-170T>C ENSP00000450482.1:n.-170T>C
NM_000623.3:c.-165T>C NP_000614.1:n.-165T>C
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