Canonical Allele Identifier: CA349161448
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169487825-A-G
MyVariant Identifiers: chr2:g.170344335A>G (hg19) chr2:g.169487825A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487825A>G , CM000664.2:g.169487825A>G GRCh38
NC_000002.11:g.170344335A>G , CM000664.1:g.170344335A>G GRCh37
NC_000002.10:g.170052581A>G NCBI36
NG_011567.1:g.13330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.228A>G MANE Select ENSP00000295240.3:p.Ile76Met
ENST00000295240.7:c.228A>G ENSP00000295240.3:p.Ile76Met
ENST00000392663.6:c.228A>G ENSP00000376431.2:p.Ile76Met
ENST00000443151.1:c.143-162A>G ENSP00000406182.1:n.143-162A>G
ENST00000475571.1:n.64A>G
ENST00000513963.1:c.228A>G ENSP00000424363.1:p.Ile76Met
NM_152384.2:c.228A>G NP_689597.1:p.Ile76Met
NM_152384.3:c.228A>G MANE Select NP_689597.1:p.Ile76Met
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Search 100 bp 3'