Canonical Allele Identifier: CA374036629

Gene: BICD2

Linked Data

• ClinVar Variation Id: 650473
• ClinVar RCV Id: RCV000805633
• dbSNP Id: rs1587668769
• MyVariant Identifiers: chr9:g.95481294T>C (hg19) ; chr9:g.92719012T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719012T>C , CM000671.2:g.92719012T>C	GRCh38
NC_000009.11:g.95481294T>C , CM000671.1:g.95481294T>C	GRCh37
NC_000009.10:g.94521115T>C	NCBI36
NG_033908.1:g.50790A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356884.11:c.1633A>G MANE Select	ENSP00000349351.6:p.Asn545Asp
ENST00000356884.10:c.1633A>G	ENSP00000349351.6:p.Asn545Asp
ENST00000375512.3:c.1633A>G	ENSP00000364662.3:p.Asn545Asp
NM_001003800.1:c.1633A>G	NP_001003800.1:p.Asn545Asp
NM_015250.3:c.1633A>G	NP_056065.1:p.Asn545Asp
XM_017014551.1:c.1714A>G	XP_016870040.1:p.Asn572Asp
NM_001003800.2:c.1633A>G MANE Select	NP_001003800.1:p.Asn545Asp
NM_015250.4:c.1633A>G	NP_056065.1:p.Asn545Asp