Canonical Allele Identifier: CA466029956

Gene: BICD2

Linked Data

• ClinVar Variation Id: 2737918
• ClinVar RCV Id: RCV003581488
• dbSNP Id: rs754613422
• gnomAD v4: 9-92718554-G-A
• MyVariant Identifiers: chr9:g.95480836G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718554G>A , CM000671.2:g.92718554G>A	GRCh38
NC_000009.11:g.95480836G>A , CM000671.1:g.95480836G>A	GRCh37
NC_000009.10:g.94520657G>A	NCBI36
NG_033908.1:g.51248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2091C>T MANE Select	ENSP00000349351.6:p.Leu697=
ENST00000356884.10:c.2091C>T	ENSP00000349351.6:p.Leu697=
ENST00000375512.3:c.2091C>T	ENSP00000364662.3:p.Leu697=
NM_001003800.1:c.2091C>T	NP_001003800.1:p.Leu697=
NM_015250.3:c.2091C>T	NP_056065.1:p.Leu697=
XM_017014551.1:c.2172C>T	XP_016870040.1:p.Leu724=
NM_001003800.2:c.2091C>T MANE Select	NP_001003800.1:p.Leu697=
NM_015250.4:c.2091C>T	NP_056065.1:p.Leu697=