Canonical Allele Identifier: CA5126611

Gene: BICD2

Linked Data

• ClinVar Variation Id: 2538412
• ClinVar RCV Id: RCV003256570 ; RCV003741340
• dbSNP Id: rs749831276
• ExAC: 9:95481734 C / T
• gnomAD v2: 9-95481734-C-T
• gnomAD v4: 9-92719452-C-T
• COSMIC: COSM243199
• MyVariant Identifiers: chr9:g.95481734C>T (hg19) ; chr9:g.92719452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719452C>T , CM000671.2:g.92719452C>T	GRCh38
NC_000009.11:g.95481734C>T , CM000671.1:g.95481734C>T	GRCh37
NC_000009.10:g.94521555C>T	NCBI36
NG_033908.1:g.50350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1193G>A MANE Select	ENSP00000349351.6:p.Arg398Gln
ENST00000356884.10:c.1193G>A	ENSP00000349351.6:p.Arg398Gln
ENST00000375512.3:c.1193G>A	ENSP00000364662.3:p.Arg398Gln
NM_001003800.1:c.1193G>A	NP_001003800.1:p.Arg398Gln
NM_015250.3:c.1193G>A	NP_056065.1:p.Arg398Gln
XM_017014551.1:c.1274G>A	XP_016870040.1:p.Arg425Gln
NM_001003800.2:c.1193G>A MANE Select	NP_001003800.1:p.Arg398Gln
NM_015250.4:c.1193G>A	NP_056065.1:p.Arg398Gln