Canonical Allele Identifier: CA5126610
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 665983
dbSNP Id: rs200542458
gnomAD v2: 9-95481732-G-A
gnomAD v3: 9-92719450-G-A
gnomAD v4: 9-92719450-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719450G>A , CM000671.2:g.92719450G>A GRCh38
NC_000009.11:g.95481732G>A , CM000671.1:g.95481732G>A GRCh37
NC_000009.10:g.94521553G>A NCBI36
NG_033908.1:g.50352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1195C>T MANE Select ENSP00000349351.6:p.Arg399Cys
ENST00000356884.10:c.1195C>T ENSP00000349351.6:p.Arg399Cys
ENST00000375512.3:c.1195C>T ENSP00000364662.3:p.Arg399Cys
NM_001003800.1:c.1195C>T NP_001003800.1:p.Arg399Cys
NM_015250.3:c.1195C>T NP_056065.1:p.Arg399Cys
XM_017014551.1:c.1276C>T XP_016870040.1:p.Arg426Cys
NM_001003800.2:c.1195C>T MANE Select NP_001003800.1:p.Arg399Cys
NM_015250.4:c.1195C>T NP_056065.1:p.Arg399Cys