Canonical Allele Identifier: CA1956199
Gene: BBS5 HGNC NCBI

Linked Data

dbSNP Id: rs768902762
ExAC: 2:170349335 A / G
gnomAD v2: 2-170349335-A-G
gnomAD v3: 2-169492825-A-G
gnomAD v4: 2-169492825-A-G
MyVariant Identifiers: chr2:g.170349335A>G (hg19) chr2:g.169492825A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492825A>G , CM000664.2:g.169492825A>G GRCh38
NC_000002.11:g.170349335A>G , CM000664.1:g.170349335A>G GRCh37
NC_000002.10:g.170057581A>G NCBI36
NG_011567.1:g.18330A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.387-49A>G MANE Select ENSP00000295240.3:n.387-49A>G
ENST00000295240.7:c.387-49A>G ENSP00000295240.3:n.387-49A>G
ENST00000392663.6:c.387-49A>G ENSP00000376431.2:n.387-49A>G
ENST00000443151.1:c.*109-49A>G ENSP00000406182.1:n.*109-49A>G
ENST00000475571.1:n.354-49A>G
ENST00000513963.1:c.387-49A>G ENSP00000424363.1:n.387-49A>G
NM_152384.2:c.387-49A>G NP_689597.1:n.387-49A>G
NM_152384.3:c.387-49A>G MANE Select NP_689597.1:n.387-49A>G
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