Canonical Allele Identifier: CA5126297

Gene: BICD2

Linked Data

• ClinVar Variation Id: 386265
• ClinVar RCV Id: RCV000432556 ; RCV000536962 ; RCV001698242 ; RCV002446704 ; RCV003959941
• dbSNP Id: rs34451610
• ExAC: 9:95477559 C / T
• gnomAD v2: 9-95477559-C-T
• gnomAD v3: 9-92715277-C-T
• gnomAD v4: 9-92715277-C-T
• MyVariant Identifiers: chr9:g.95477559C>T (hg19) ; chr9:g.92715277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92715277C>T , CM000671.2:g.92715277C>T	GRCh38
NC_000009.11:g.95477559C>T , CM000671.1:g.95477559C>T	GRCh37
NC_000009.10:g.94517380C>T	NCBI36
NG_033908.1:g.54525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2445G>A MANE Select	ENSP00000349351.6:p.Pro815=
ENST00000356884.10:c.2445G>A	ENSP00000349351.6:p.Pro815=
ENST00000375512.3:c.2445G>A	ENSP00000364662.3:p.Pro815=
NM_001003800.1:c.2445G>A	NP_001003800.1:p.Pro815=
NM_015250.3:c.2445G>A	NP_056065.1:p.Pro815=
XM_017014551.1:c.2526G>A	XP_016870040.1:p.Pro842=
NM_001003800.2:c.2445G>A MANE Select	NP_001003800.1:p.Pro815=
NM_015250.4:c.2445G>A	NP_056065.1:p.Pro815=