Canonical Allele Identifier: CA5126568
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390984
ClinVar RCV Id: RCV000431086 RCV000865507 RCV002393045 RCV003925292
dbSNP Id: rs78319441
ExAC: 9:95481540 G / A
gnomAD v2: 9-95481540-G-A
gnomAD v3: 9-92719258-G-A
gnomAD v4: 9-92719258-G-A
COSMIC: COSM4139010
MyVariant Identifiers: chr9:g.95481540G>A (hg19) chr9:g.92719258G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719258G>A , CM000671.2:g.92719258G>A GRCh38
NC_000009.11:g.95481540G>A , CM000671.1:g.95481540G>A GRCh37
NC_000009.10:g.94521361G>A NCBI36
NG_033908.1:g.50544C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1387C>T MANE Select ENSP00000349351.6:p.Arg463Cys
ENST00000356884.10:c.1387C>T ENSP00000349351.6:p.Arg463Cys
ENST00000375512.3:c.1387C>T ENSP00000364662.3:p.Arg463Cys
NM_001003800.1:c.1387C>T NP_001003800.1:p.Arg463Cys
NM_015250.3:c.1387C>T NP_056065.1:p.Arg463Cys
XM_017014551.1:c.1468C>T XP_016870040.1:p.Arg490Cys
NM_001003800.2:c.1387C>T MANE Select NP_001003800.1:p.Arg463Cys
NM_015250.4:c.1387C>T NP_056065.1:p.Arg463Cys
Search 100 bp 5'
Search 100 bp 3'