Canonical Allele Identifier: CA374033705
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2015487
ClinVar RCV Id: RCV002846379
gnomAD v4: 9-92718559-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718559C>G , CM000671.2:g.92718559C>G GRCh38
NC_000009.11:g.95480841C>G , CM000671.1:g.95480841C>G GRCh37
NC_000009.10:g.94520662C>G NCBI36
NG_033908.1:g.51243G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2086G>C MANE Select ENSP00000349351.6:p.Val696Leu
ENST00000356884.10:c.2086G>C ENSP00000349351.6:p.Val696Leu
ENST00000375512.3:c.2086G>C ENSP00000364662.3:p.Val696Leu
NM_001003800.1:c.2086G>C NP_001003800.1:p.Val696Leu
NM_015250.3:c.2086G>C NP_056065.1:p.Val696Leu
XM_017014551.1:c.2167G>C XP_016870040.1:p.Val723Leu
NM_001003800.2:c.2086G>C MANE Select NP_001003800.1:p.Val696Leu
NM_015250.4:c.2086G>C NP_056065.1:p.Val696Leu