Canonical Allele Identifier: CA196339794
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486395
ClinVar RCV Id: RCV002030655
dbSNP Id: rs372899268
gnomAD v3: 9-92718637-C-T
gnomAD v4: 9-92718637-C-T
MyVariant Identifiers: chr9:g.95480919C>T (hg19) chr9:g.92718637C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718637C>T , CM000671.2:g.92718637C>T GRCh38
NC_000009.11:g.95480919C>T , CM000671.1:g.95480919C>T GRCh37
NC_000009.10:g.94520740C>T NCBI36
NG_033908.1:g.51165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2008G>A MANE Select ENSP00000349351.6:p.Glu670Lys
ENST00000356884.10:c.2008G>A ENSP00000349351.6:p.Glu670Lys
ENST00000375512.3:c.2008G>A ENSP00000364662.3:p.Glu670Lys
NM_001003800.1:c.2008G>A NP_001003800.1:p.Glu670Lys
NM_015250.3:c.2008G>A NP_056065.1:p.Glu670Lys
XM_017014551.1:c.2089G>A XP_016870040.1:p.Glu697Lys
NM_001003800.2:c.2008G>A MANE Select NP_001003800.1:p.Glu670Lys
NM_015250.4:c.2008G>A NP_056065.1:p.Glu670Lys
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