Canonical Allele Identifier: CA1956042

Gene: BBS5

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)

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