Canonical Allele Identifier: CA5126527

Gene: BICD2

Linked Data

• ClinVar Variation Id: 432264
• ClinVar RCV Id: RCV000497977 ; RCV000811828 ; RCV002404303
• dbSNP Id: rs200091763
• ExAC: 9:95481387 C / T
• gnomAD v2: 9-95481387-C-T
• gnomAD v3: 9-92719105-C-T
• gnomAD v4: 9-92719105-C-T
• MyVariant Identifiers: chr9:g.95481387C>T (hg19) ; chr9:g.92719105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719105C>T , CM000671.2:g.92719105C>T	GRCh38
NC_000009.11:g.95481387C>T , CM000671.1:g.95481387C>T	GRCh37
NC_000009.10:g.94521208C>T	NCBI36
NG_033908.1:g.50697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1540G>A MANE Select	ENSP00000349351.6:p.Gly514Ser
ENST00000356884.10:c.1540G>A	ENSP00000349351.6:p.Gly514Ser
ENST00000375512.3:c.1540G>A	ENSP00000364662.3:p.Gly514Ser
NM_001003800.1:c.1540G>A	NP_001003800.1:p.Gly514Ser
NM_015250.3:c.1540G>A	NP_056065.1:p.Gly514Ser
XM_017014551.1:c.1621G>A	XP_016870040.1:p.Gly541Ser
NM_001003800.2:c.1540G>A MANE Select	NP_001003800.1:p.Gly514Ser
NM_015250.4:c.1540G>A	NP_056065.1:p.Gly514Ser