Canonical Allele Identifier: CA2626381888
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204821-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204821T>C , CM000676.2:g.96204821T>C GRCh38
NC_000014.8:g.96671158T>C , CM000676.1:g.96671158T>C GRCh37
NC_000014.7:g.95740911T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000542454.2:c.-2946T>C ENSP00000439459.2:n.-2946T>C
ENST00000554311.1:c.-178T>C ENSP00000450482.1:n.-178T>C
NM_000623.3:c.-173T>C NP_000614.1:n.-173T>C
Search 100 bp 5'
Search 100 bp 3'