Canonical Allele Identifier: CA233053

Gene: BICD2

Linked Data

• ClinVar Variation Id: 155729
• ClinVar RCV Id: RCV000143798 ; RCV000789076 ; RCV000988189
• dbSNP Id: rs587777885
• gnomAD v2: 9-95480934-C-A
• gnomAD v3: 9-92718652-C-A
• gnomAD v4: 9-92718652-C-A
• MyVariant Identifiers: chr9:g.95480934C>A (hg19) ; chr9:g.92718652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718652C>A , CM000671.2:g.92718652C>A	GRCh38
NC_000009.11:g.95480934C>A , CM000671.1:g.95480934C>A	GRCh37
NC_000009.10:g.94520755C>A	NCBI36
NG_033908.1:g.51150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1993G>T MANE Select	ENSP00000349351.6:p.Val665Leu
ENST00000356884.10:c.1993G>T	ENSP00000349351.6:p.Val665Leu
ENST00000375512.3:c.1993G>T	ENSP00000364662.3:p.Val665Leu
NM_001003800.1:c.1993G>T	NP_001003800.1:p.Val665Leu
NM_015250.3:c.1993G>T	NP_056065.1:p.Val665Leu
XM_017014551.1:c.2074G>T	XP_016870040.1:p.Val692Leu
NM_001003800.2:c.1993G>T MANE Select	NP_001003800.1:p.Val665Leu
NM_015250.4:c.1993G>T	NP_056065.1:p.Val665Leu