Canonical Allele Identifier: CA253783
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6157
ClinVar RCV Id: RCV000006532 RCV002307356
dbSNP Id: rs587777828
gnomAD v4: 2-169493012-A-G
MyVariant Identifiers: chr2:g.170349522A>G (hg19) chr2:g.169493012A>G (hg38)
PubMed: PMID:15137946
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169493012A>G , CM000664.2:g.169493012A>G GRCh38
NC_000002.11:g.170349522A>G , CM000664.1:g.170349522A>G GRCh37
NC_000002.10:g.170057768A>G NCBI36
NG_011567.1:g.18517A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.522+3A>G MANE Select ENSP00000295240.3:n.522+3A>G
ENST00000295240.7:c.522+3A>G ENSP00000295240.3:n.522+3A>G
ENST00000392663.6:c.522+3A>G ENSP00000376431.2:n.522+3A>G
ENST00000443151.1:c.*244+3A>G ENSP00000406182.1:n.*244+3A>G
ENST00000475571.1:n.492A>G
ENST00000513963.1:c.522+3A>G ENSP00000424363.1:n.522+3A>G
NM_152384.2:c.522+3A>G NP_689597.1:n.522+3A>G
NM_152384.3:c.522+3A>G MANE Select NP_689597.1:n.522+3A>G
Search 100 bp 5'
Search 100 bp 3'