Canonical Allele Identifier: CA5126479

Gene: BICD2

Linked Data

• ClinVar Variation Id: 1644249
• ClinVar RCV Id: RCV002140421
• dbSNP Id: rs573487238
• ExAC: 9:95481125 C / T
• gnomAD v2: 9-95481125-C-T
• gnomAD v3: 9-92718843-C-T
• gnomAD v4: 9-92718843-C-T
• MyVariant Identifiers: chr9:g.95481125C>T (hg19) ; chr9:g.95481125_95481127delinsTCA (hg19) ; chr9:g.92718843C>T (hg38) ; chr9:g.92718843_92718845delinsTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718843C>T , CM000671.2:g.92718843C>T	GRCh38
NC_000009.11:g.95481125C>T , CM000671.1:g.95481125C>T	GRCh37
NC_000009.10:g.94520946C>T	NCBI36
NG_033908.1:g.50959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1802G>A MANE Select	ENSP00000349351.6:p.Gly601Glu
ENST00000356884.10:c.1802G>A	ENSP00000349351.6:p.Gly601Glu
ENST00000375512.3:c.1802G>A	ENSP00000364662.3:p.Gly601Glu
NM_001003800.1:c.1802G>A	NP_001003800.1:p.Gly601Glu
NM_015250.3:c.1802G>A	NP_056065.1:p.Gly601Glu
XM_017014551.1:c.1883G>A	XP_016870040.1:p.Gly628Glu
NM_001003800.2:c.1802G>A MANE Select	NP_001003800.1:p.Gly601Glu
NM_015250.4:c.1802G>A	NP_056065.1:p.Gly601Glu