Canonical Allele Identifier: CA5126547

Gene: BICD2

Linked Data

• ClinVar Variation Id: 541283
• ClinVar RCV Id: RCV000651517 ; RCV002269299 ; RCV002388139
• dbSNP Id: rs146113445
• ExAC: 9:95481450 G / A
• gnomAD v2: 9-95481450-G-A
• gnomAD v3: 9-92719168-G-A
• gnomAD v4: 9-92719168-G-A
• MyVariant Identifiers: chr9:g.95481450G>A (hg19) ; chr9:g.92719168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719168G>A , CM000671.2:g.92719168G>A	GRCh38
NC_000009.11:g.95481450G>A , CM000671.1:g.95481450G>A	GRCh37
NC_000009.10:g.94521271G>A	NCBI36
NG_033908.1:g.50634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1477C>T MANE Select	ENSP00000349351.6:p.Arg493Cys
ENST00000356884.10:c.1477C>T	ENSP00000349351.6:p.Arg493Cys
ENST00000375512.3:c.1477C>T	ENSP00000364662.3:p.Arg493Cys
NM_001003800.1:c.1477C>T	NP_001003800.1:p.Arg493Cys
NM_015250.3:c.1477C>T	NP_056065.1:p.Arg493Cys
XM_017014551.1:c.1558C>T	XP_016870040.1:p.Arg520Cys
NM_001003800.2:c.1477C>T MANE Select	NP_001003800.1:p.Arg493Cys
NM_015250.4:c.1477C>T	NP_056065.1:p.Arg493Cys