Canonical Allele Identifier: CA5126492
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 847744
ClinVar RCV Id: RCV001051352 RCV002400291
dbSNP Id: rs776528966
ExAC: 9:95481194 C / T
gnomAD v2: 9-95481194-C-T
gnomAD v3: 9-92718912-C-T
gnomAD v4: 9-92718912-C-T
MyVariant Identifiers: chr9:g.95481194C>T (hg19) chr9:g.92718912C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718912C>T , CM000671.2:g.92718912C>T GRCh38
NC_000009.11:g.95481194C>T , CM000671.1:g.95481194C>T GRCh37
NC_000009.10:g.94521015C>T NCBI36
NG_033908.1:g.50890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1733G>A MANE Select ENSP00000349351.6:p.Arg578His
ENST00000356884.10:c.1733G>A ENSP00000349351.6:p.Arg578His
ENST00000375512.3:c.1733G>A ENSP00000364662.3:p.Arg578His
NM_001003800.1:c.1733G>A NP_001003800.1:p.Arg578His
NM_015250.3:c.1733G>A NP_056065.1:p.Arg578His
XM_017014551.1:c.1814G>A XP_016870040.1:p.Arg605His
NM_001003800.2:c.1733G>A MANE Select NP_001003800.1:p.Arg578His
NM_015250.4:c.1733G>A NP_056065.1:p.Arg578His
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