Canonical Allele Identifier: CA209708
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 210526
ClinVar RCV Id: RCV000195105 RCV000258929 RCV000754661 RCV001576548 RCV003311712
dbSNP Id: rs797045412
MyVariant Identifiers: chr9:g.95480847G>A (hg19) chr9:g.92718565G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718565G>A , CM000671.2:g.92718565G>A GRCh38
NC_000009.11:g.95480847G>A , CM000671.1:g.95480847G>A GRCh37
NC_000009.10:g.94520668G>A NCBI36
NG_033908.1:g.51237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2080C>T MANE Select ENSP00000349351.6:p.Arg694Cys
ENST00000356884.10:c.2080C>T ENSP00000349351.6:p.Arg694Cys
ENST00000375512.3:c.2080C>T ENSP00000364662.3:p.Arg694Cys
NM_001003800.1:c.2080C>T NP_001003800.1:p.Arg694Cys
NM_015250.3:c.2080C>T NP_056065.1:p.Arg694Cys
XM_017014551.1:c.2161C>T XP_016870040.1:p.Arg721Cys
NM_001003800.2:c.2080C>T MANE Select NP_001003800.1:p.Arg694Cys
NM_015250.4:c.2080C>T NP_056065.1:p.Arg694Cys
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Search 100 bp 3'