Canonical Allele Identifier: CA374036641

Gene: BICD2

Linked Data

• ClinVar Variation Id: 860417
• ClinVar RCV Id: RCV001066709
• dbSNP Id: rs1853395351
• MyVariant Identifiers: chr9:g.95481296C>T (hg19) ; chr9:g.92719014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719014C>T , CM000671.2:g.92719014C>T	GRCh38
NC_000009.11:g.95481296C>T , CM000671.1:g.95481296C>T	GRCh37
NC_000009.10:g.94521117C>T	NCBI36
NG_033908.1:g.50788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356884.11:c.1631G>A MANE Select	ENSP00000349351.6:p.Cys544Tyr
ENST00000356884.10:c.1631G>A	ENSP00000349351.6:p.Cys544Tyr
ENST00000375512.3:c.1631G>A	ENSP00000364662.3:p.Cys544Tyr
NM_001003800.1:c.1631G>A	NP_001003800.1:p.Cys544Tyr
NM_015250.3:c.1631G>A	NP_056065.1:p.Cys544Tyr
XM_017014551.1:c.1712G>A	XP_016870040.1:p.Cys571Tyr
NM_001003800.2:c.1631G>A MANE Select	NP_001003800.1:p.Cys544Tyr
NM_015250.4:c.1631G>A	NP_056065.1:p.Cys544Tyr