Canonical Allele Identifier: CA5126590
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1353813
ClinVar RCV Id: RCV001887660
dbSNP Id: rs780600581
ExAC: 9:95481636 C / T
gnomAD v2: 9-95481636-C-T
gnomAD v4: 9-92719354-C-T
MyVariant Identifiers: chr9:g.95481636C>T (hg19) chr9:g.92719354C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719354C>T , CM000671.2:g.92719354C>T GRCh38
NC_000009.11:g.95481636C>T , CM000671.1:g.95481636C>T GRCh37
NC_000009.10:g.94521457C>T NCBI36
NG_033908.1:g.50448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1291G>A MANE Select ENSP00000349351.6:p.Gly431Arg
ENST00000356884.10:c.1291G>A ENSP00000349351.6:p.Gly431Arg
ENST00000375512.3:c.1291G>A ENSP00000364662.3:p.Gly431Arg
NM_001003800.1:c.1291G>A NP_001003800.1:p.Gly431Arg
NM_015250.3:c.1291G>A NP_056065.1:p.Gly431Arg
XM_017014551.1:c.1372G>A XP_016870040.1:p.Gly458Arg
NM_001003800.2:c.1291G>A MANE Select NP_001003800.1:p.Gly431Arg
NM_015250.4:c.1291G>A NP_056065.1:p.Gly431Arg
Search 100 bp 5'
Search 100 bp 3'