Canonical Allele Identifier: CA5126448

Gene: BICD2

Linked Data

• ClinVar Variation Id: 1409853
• ClinVar RCV Id: RCV001939937
• dbSNP Id: rs774220760
• ExAC: 9:95480987 C / T
• gnomAD v2: 9-95480987-C-T
• gnomAD v3: 9-92718705-C-T
• gnomAD v4: 9-92718705-C-T
• COSMIC: COSM198640 ; COSM4871219
• MyVariant Identifiers: chr9:g.95480987C>T (hg19) ; chr9:g.92718705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718705C>T , CM000671.2:g.92718705C>T	GRCh38
NC_000009.11:g.95480987C>T , CM000671.1:g.95480987C>T	GRCh37
NC_000009.10:g.94520808C>T	NCBI36
NG_033908.1:g.51097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1940G>A MANE Select	ENSP00000349351.6:p.Arg647His
ENST00000356884.10:c.1940G>A	ENSP00000349351.6:p.Arg647His
ENST00000375512.3:c.1940G>A	ENSP00000364662.3:p.Arg647His
NM_001003800.1:c.1940G>A	NP_001003800.1:p.Arg647His
NM_015250.3:c.1940G>A	NP_056065.1:p.Arg647His
XM_017014551.1:c.2021G>A	XP_016870040.1:p.Arg674His
NM_001003800.2:c.1940G>A MANE Select	NP_001003800.1:p.Arg647His
NM_015250.4:c.1940G>A	NP_056065.1:p.Arg647His