Canonical Allele Identifier: CA5126599
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1419422
ClinVar RCV Id: RCV001910340
dbSNP Id: rs368361239
ExAC: 9:95481690 C / T
gnomAD v2: 9-95481690-C-T
gnomAD v4: 9-92719408-C-T
MyVariant Identifiers: chr9:g.95481690C>T (hg19) chr9:g.95481690_95481693delinsTGTT (hg19) chr9:g.92719408C>T (hg38) chr9:g.92719408_92719411delinsTGTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719408C>T , CM000671.2:g.92719408C>T GRCh38
NC_000009.11:g.95481690C>T , CM000671.1:g.95481690C>T GRCh37
NC_000009.10:g.94521511C>T NCBI36
NG_033908.1:g.50394G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1237G>A MANE Select ENSP00000349351.6:p.Glu413Lys
ENST00000356884.10:c.1237G>A ENSP00000349351.6:p.Glu413Lys
ENST00000375512.3:c.1237G>A ENSP00000364662.3:p.Glu413Lys
NM_001003800.1:c.1237G>A NP_001003800.1:p.Glu413Lys
NM_015250.3:c.1237G>A NP_056065.1:p.Glu413Lys
XM_017014551.1:c.1318G>A XP_016870040.1:p.Glu440Lys
NM_001003800.2:c.1237G>A MANE Select NP_001003800.1:p.Glu413Lys
NM_015250.4:c.1237G>A NP_056065.1:p.Glu413Lys
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