Canonical Allele Identifier: CA5126485

Gene: BICD2

Linked Data

• ClinVar Variation Id: 1531918
• ClinVar RCV Id: RCV002106836
• dbSNP Id: rs540475126
• ExAC: 9:95481169 T / C
• gnomAD v2: 9-95481169-T-C
• gnomAD v3: 9-92718887-T-C
• gnomAD v4: 9-92718887-T-C
• MyVariant Identifiers: chr9:g.95481169T>C (hg19) ; chr9:g.95481169_95481172delinsCAGG (hg19) ; chr9:g.92718887T>C (hg38) ; chr9:g.92718887_92718890delinsCAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718887T>C , CM000671.2:g.92718887T>C	GRCh38
NC_000009.11:g.95481169T>C , CM000671.1:g.95481169T>C	GRCh37
NC_000009.10:g.94520990T>C	NCBI36
NG_033908.1:g.50915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1758A>G MANE Select	ENSP00000349351.6:p.Leu586=
ENST00000356884.10:c.1758A>G	ENSP00000349351.6:p.Leu586=
ENST00000375512.3:c.1758A>G	ENSP00000364662.3:p.Leu586=
NM_001003800.1:c.1758A>G	NP_001003800.1:p.Leu586=
NM_015250.3:c.1758A>G	NP_056065.1:p.Leu586=
XM_017014551.1:c.1839A>G	XP_016870040.1:p.Leu613=
NM_001003800.2:c.1758A>G MANE Select	NP_001003800.1:p.Leu586=
NM_015250.4:c.1758A>G	NP_056065.1:p.Leu586=