Canonical Allele Identifier: CA5126580
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 835746
ClinVar RCV Id: RCV001036700
dbSNP Id: rs545926410
ExAC: 9:95481578 C / T
gnomAD v2: 9-95481578-C-T
gnomAD v3: 9-92719296-C-T
gnomAD v4: 9-92719296-C-T
COSMIC: COSM4632505 COSM4632506
MyVariant Identifiers: chr9:g.95481578C>T (hg19) chr9:g.92719296C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719296C>T , CM000671.2:g.92719296C>T GRCh38
NC_000009.11:g.95481578C>T , CM000671.1:g.95481578C>T GRCh37
NC_000009.10:g.94521399C>T NCBI36
NG_033908.1:g.50506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1349G>A MANE Select ENSP00000349351.6:p.Arg450His
ENST00000356884.10:c.1349G>A ENSP00000349351.6:p.Arg450His
ENST00000375512.3:c.1349G>A ENSP00000364662.3:p.Arg450His
NM_001003800.1:c.1349G>A NP_001003800.1:p.Arg450His
NM_015250.3:c.1349G>A NP_056065.1:p.Arg450His
XM_017014551.1:c.1430G>A XP_016870040.1:p.Arg477His
NM_001003800.2:c.1349G>A MANE Select NP_001003800.1:p.Arg450His
NM_015250.4:c.1349G>A NP_056065.1:p.Arg450His
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