Canonical Allele Identifier: CA5126432
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2200877
ClinVar RCV Id: RCV002638435
dbSNP Id: rs587777885
ExAC: 9:95480934 C / T
gnomAD v2: 9-95480934-C-T
gnomAD v3: 9-92718652-C-T
gnomAD v4: 9-92718652-C-T
MyVariant Identifiers: chr9:g.95480934C>T (hg19) chr9:g.92718652C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718652C>T , CM000671.2:g.92718652C>T GRCh38
NC_000009.11:g.95480934C>T , CM000671.1:g.95480934C>T GRCh37
NC_000009.10:g.94520755C>T NCBI36
NG_033908.1:g.51150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1993G>A MANE Select ENSP00000349351.6:p.Val665Met
ENST00000356884.10:c.1993G>A ENSP00000349351.6:p.Val665Met
ENST00000375512.3:c.1993G>A ENSP00000364662.3:p.Val665Met
NM_001003800.1:c.1993G>A NP_001003800.1:p.Val665Met
NM_015250.3:c.1993G>A NP_056065.1:p.Val665Met
XM_017014551.1:c.2074G>A XP_016870040.1:p.Val692Met
NM_001003800.2:c.1993G>A MANE Select NP_001003800.1:p.Val665Met
NM_015250.4:c.1993G>A NP_056065.1:p.Val665Met
Search 100 bp 5'
Search 100 bp 3'