Canonical Allele Identifier: CA5126424

Gene: BICD2

Linked Data

• dbSNP Id: rs772569212
• ExAC: 9:95480888 T / C
• gnomAD v2: 9-95480888-T-C
• gnomAD v4: 9-92718606-T-C
• MyVariant Identifiers: chr9:g.95480888T>C (hg19) ; chr9:g.92718606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718606T>C , CM000671.2:g.92718606T>C	GRCh38
NC_000009.11:g.95480888T>C , CM000671.1:g.95480888T>C	GRCh37
NC_000009.10:g.94520709T>C	NCBI36
NG_033908.1:g.51196A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2039A>G MANE Select	ENSP00000349351.6:p.Lys680Arg
ENST00000356884.10:c.2039A>G	ENSP00000349351.6:p.Lys680Arg
ENST00000375512.3:c.2039A>G	ENSP00000364662.3:p.Lys680Arg
NM_001003800.1:c.2039A>G	NP_001003800.1:p.Lys680Arg
NM_015250.3:c.2039A>G	NP_056065.1:p.Lys680Arg
XM_017014551.1:c.2120A>G	XP_016870040.1:p.Lys707Arg
NM_001003800.2:c.2039A>G MANE Select	NP_001003800.1:p.Lys680Arg
NM_015250.4:c.2039A>G	NP_056065.1:p.Lys680Arg