Canonical Allele Identifier: CA1956042
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 262633
ClinVar RCV Id: RCV000251912 RCV001553961 RCV001636831
dbSNP Id: rs1879466
ExAC: 2:170336024 G / C
gnomAD v2: 2-170336024-G-C
gnomAD v3: 2-169479514-G-C
gnomAD v4: 2-169479514-G-C
MyVariant Identifiers: chr2:g.170336024G>C (hg19) chr2:g.169479514G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169479514G>C , CM000664.2:g.169479514G>C GRCh38
NC_000002.11:g.170336024G>C , CM000664.1:g.170336024G>C GRCh37
NC_000002.10:g.170044270G>C NCBI36
NG_011567.1:g.5019G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.-40G>C MANE Select ENSP00000295240.3:n.-40G>C
ENST00000295240.7:c.-40G>C ENSP00000295240.3:n.-40G>C
ENST00000392663.6:c.-40G>C ENSP00000376431.2:n.-40G>C
ENST00000443151.1:c.-40G>C ENSP00000406182.1:n.-40G>C
ENST00000469980.1:n.35G>C
ENST00000513963.1:c.-40G>C ENSP00000424363.1:n.-40G>C
NM_152384.2:c.-40G>C NP_689597.1:n.-40G>C
NM_152384.3:c.-40G>C MANE Select NP_689597.1:n.-40G>C
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