Canonical Allele Identifier: CA349161690
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 560431
ClinVar RCV Id: RCV000678527
dbSNP Id: rs1559122157
gnomAD v4: 2-169487857-T-C
MyVariant Identifiers: chr2:g.170344367T>C (hg19) chr2:g.169487857T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487857T>C , CM000664.2:g.169487857T>C GRCh38
NC_000002.11:g.170344367T>C , CM000664.1:g.170344367T>C GRCh37
NC_000002.10:g.170052613T>C NCBI36
NG_011567.1:g.13362T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.258+2T>C MANE Select ENSP00000295240.3:n.258+2T>C
ENST00000295240.7:c.258+2T>C ENSP00000295240.3:n.258+2T>C
ENST00000392663.6:c.258+2T>C ENSP00000376431.2:n.258+2T>C
ENST00000443151.1:c.143-130T>C ENSP00000406182.1:n.143-130T>C
ENST00000475571.1:n.96T>C
ENST00000513963.1:c.258+2T>C ENSP00000424363.1:n.258+2T>C
NM_152384.2:c.258+2T>C NP_689597.1:n.258+2T>C
NM_152384.3:c.258+2T>C MANE Select NP_689597.1:n.258+2T>C
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