Canonical Allele Identifier: CA1956077
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 262636
ClinVar RCV Id: RCV000254056 RCV000467258
dbSNP Id: rs10188609
ExAC: 2:170336102 C / G
gnomAD v2: 2-170336102-C-G
gnomAD v3: 2-169479592-C-G
gnomAD v4: 2-169479592-C-G
MyVariant Identifiers: chr2:g.170336102C>G (hg19) chr2:g.169479592C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169479592C>G , CM000664.2:g.169479592C>G GRCh38
NC_000002.11:g.170336102C>G , CM000664.1:g.170336102C>G GRCh37
NC_000002.10:g.170044348C>G NCBI36
NG_011567.1:g.5097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.39C>G MANE Select ENSP00000295240.3:p.Val13=
ENST00000295240.7:c.39C>G ENSP00000295240.3:p.Val13=
ENST00000392663.6:c.39C>G ENSP00000376431.2:p.Val13=
ENST00000443151.1:c.39C>G ENSP00000406182.1:p.Val13=
ENST00000469980.1:n.113C>G
ENST00000513963.1:c.39C>G ENSP00000424363.1:p.Val13=
NM_152384.2:c.39C>G NP_689597.1:p.Val13=
NM_152384.3:c.39C>G MANE Select NP_689597.1:p.Val13=
Search 100 bp 5'
Search 100 bp 3'