Canonical Allele Identifier: CA374034890
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2442262
ClinVar RCV Id: RCV003325417
MyVariant Identifiers: chr9:g.95481005A>C (hg19) chr9:g.92718723A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718723A>C , CM000671.2:g.92718723A>C GRCh38
NC_000009.11:g.95481005A>C , CM000671.1:g.95481005A>C GRCh37
NC_000009.10:g.94520826A>C NCBI36
NG_033908.1:g.51079T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1922T>G MANE Select ENSP00000349351.6:p.Leu641Arg
ENST00000356884.10:c.1922T>G ENSP00000349351.6:p.Leu641Arg
ENST00000375512.3:c.1922T>G ENSP00000364662.3:p.Leu641Arg
NM_001003800.1:c.1922T>G NP_001003800.1:p.Leu641Arg
NM_015250.3:c.1922T>G NP_056065.1:p.Leu641Arg
XM_017014551.1:c.2003T>G XP_016870040.1:p.Leu668Arg
NM_001003800.2:c.1922T>G MANE Select NP_001003800.1:p.Leu641Arg
NM_015250.4:c.1922T>G NP_056065.1:p.Leu641Arg
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