Canonical Allele Identifier: CA349164685
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210083
ClinVar RCV Id: RCV001580050 RCV001780411 RCV001866093
dbSNP Id: rs1574339529
MyVariant Identifiers: chr2:g.170349422T>G (hg19) chr2:g.169492912T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492912T>G , CM000664.2:g.169492912T>G GRCh38
NC_000002.11:g.170349422T>G , CM000664.1:g.170349422T>G GRCh37
NC_000002.10:g.170057668T>G NCBI36
NG_011567.1:g.18417T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.425T>G MANE Select ENSP00000295240.3:p.Leu142Ter
ENST00000295240.7:c.425T>G ENSP00000295240.3:p.Leu142Ter
ENST00000392663.6:c.425T>G ENSP00000376431.2:p.Leu142Ter
ENST00000443151.1:c.*147T>G ENSP00000406182.1:n.*147T>G
ENST00000475571.1:n.392T>G
ENST00000513963.1:c.425T>G ENSP00000424363.1:p.Leu142Ter
NM_152384.2:c.425T>G NP_689597.1:p.Leu142Ter
NM_152384.3:c.425T>G MANE Select NP_689597.1:p.Leu142Ter
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