Canonical Allele Identifier: CA1956105
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 262634
ClinVar RCV Id: RCV000244112 RCV000468328
dbSNP Id: rs16823066
ExAC: 2:170338809 C / T
gnomAD v2: 2-170338809-C-T
gnomAD v3: 2-169482299-C-T
gnomAD v4: 2-169482299-C-T
MyVariant Identifiers: chr2:g.170338809C>T (hg19) chr2:g.169482299C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169482299C>T , CM000664.2:g.169482299C>T GRCh38
NC_000002.11:g.170338809C>T , CM000664.1:g.170338809C>T GRCh37
NC_000002.10:g.170047055C>T NCBI36
NG_011567.1:g.7804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.108C>T MANE Select ENSP00000295240.3:p.Ser36=
ENST00000295240.7:c.108C>T ENSP00000295240.3:p.Ser36=
ENST00000392663.6:c.108C>T ENSP00000376431.2:p.Ser36=
ENST00000443151.1:c.108C>T ENSP00000406182.1:p.Ser36=
ENST00000469980.1:n.182C>T
ENST00000513963.1:c.108C>T ENSP00000424363.1:p.Ser36=
NM_152384.2:c.108C>T NP_689597.1:p.Ser36=
NM_152384.3:c.108C>T MANE Select NP_689597.1:p.Ser36=
Search 100 bp 5'
Search 100 bp 3'