Canonical Allele Identifier: CA5126361

Gene: BICD2

Linked Data

• ClinVar Variation Id: 387003
• ClinVar RCV Id: RCV000424060 ; RCV002502558 ; RCV002059718 ; RCV001810935
• dbSNP Id: rs140501870
• ExAC: 9:95480064 C / G
• gnomAD v2: 9-95480064-C-G
• gnomAD v3: 9-92717782-C-G
• gnomAD v4: 9-92717782-C-G
• MyVariant Identifiers: chr9:g.95480064C>G (hg19) ; chr9:g.92717782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92717782C>G , CM000671.2:g.92717782C>G	GRCh38
NC_000009.11:g.95480064C>G , CM000671.1:g.95480064C>G	GRCh37
NC_000009.10:g.94519885C>G	NCBI36
NG_033908.1:g.52020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2258+15G>C MANE Select	ENSP00000349351.6:n.2258+15G>C
ENST00000356884.10:c.2258+15G>C	ENSP00000349351.6:n.2258+15G>C
ENST00000375512.3:c.2258+15G>C	ENSP00000364662.3:n.2258+15G>C
NM_001003800.1:c.2258+15G>C	NP_001003800.1:n.2258+15G>C
NM_015250.3:c.2258+15G>C	NP_056065.1:n.2258+15G>C
XM_017014551.1:c.2339+15G>C	XP_016870040.1:n.2339+15G>C
NM_001003800.2:c.2258+15G>C MANE Select	NP_001003800.1:n.2258+15G>C
NM_015250.4:c.2258+15G>C	NP_056065.1:n.2258+15G>C