Canonical Allele Identifier: CA5126852

Gene: BICD2

Linked Data

• ClinVar Variation Id: 235235
• ClinVar RCV Id: RCV000224292 ; RCV000431161 ; RCV000516078 ; RCV000789077 ; RCV001081222 ; RCV002429084 ; RCV003937870
• dbSNP Id: rs61754130
• ExAC: 9:95491490 T / C
• gnomAD v2: 9-95491490-T-C
• gnomAD v3: 9-92729208-T-C
• gnomAD v4: 9-92729208-T-C
• MyVariant Identifiers: chr9:g.95491490T>C (hg19) ; chr9:g.92729208T>C (hg38)
• PubMed: PMID:23664116 ; PMID:27549087 ; PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92729208T>C , CM000671.2:g.92729208T>C	GRCh38
NC_000009.11:g.95491490T>C , CM000671.1:g.95491490T>C	GRCh37
NC_000009.10:g.94531311T>C	NCBI36
NG_033908.1:g.40594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.269A>G MANE Select	ENSP00000349351.6:p.Lys90Arg
ENST00000356884.10:c.269A>G	ENSP00000349351.6:p.Lys90Arg
ENST00000375512.3:c.269A>G	ENSP00000364662.3:p.Lys90Arg
NM_001003800.1:c.269A>G	NP_001003800.1:p.Lys90Arg
NM_015250.3:c.269A>G	NP_056065.1:p.Lys90Arg
XM_017014551.1:c.350A>G	XP_016870040.1:p.Lys117Arg
NM_001003800.2:c.269A>G MANE Select	NP_001003800.1:p.Lys90Arg
NM_015250.4:c.269A>G	NP_056065.1:p.Lys90Arg