Canonical Allele Identifier: CA5126618
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1904105
ClinVar RCV Id: RCV002577441
dbSNP Id: rs768794089
ExAC: 9:95481753 C / T
gnomAD v2: 9-95481753-C-T
gnomAD v4: 9-92719471-C-T
MyVariant Identifiers: chr9:g.95481753C>T (hg19) chr9:g.92719471C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719471C>T , CM000671.2:g.92719471C>T GRCh38
NC_000009.11:g.95481753C>T , CM000671.1:g.95481753C>T GRCh37
NC_000009.10:g.94521574C>T NCBI36
NG_033908.1:g.50331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1174G>A MANE Select ENSP00000349351.6:p.Glu392Lys
ENST00000356884.10:c.1174G>A ENSP00000349351.6:p.Glu392Lys
ENST00000375512.3:c.1174G>A ENSP00000364662.3:p.Glu392Lys
NM_001003800.1:c.1174G>A NP_001003800.1:p.Glu392Lys
NM_015250.3:c.1174G>A NP_056065.1:p.Glu392Lys
XM_017014551.1:c.1255G>A XP_016870040.1:p.Glu419Lys
NM_001003800.2:c.1174G>A MANE Select NP_001003800.1:p.Glu392Lys
NM_015250.4:c.1174G>A NP_056065.1:p.Glu392Lys
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