Canonical Allele Identifier: CA374033949
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2807945
ClinVar RCV Id: RCV003741675
MyVariant Identifiers: chr9:g.95480862G>C (hg19) chr9:g.92718580G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718580G>C , CM000671.2:g.92718580G>C GRCh38
NC_000009.11:g.95480862G>C , CM000671.1:g.95480862G>C GRCh37
NC_000009.10:g.94520683G>C NCBI36
NG_033908.1:g.51222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2065C>G MANE Select ENSP00000349351.6:p.Gln689Glu
ENST00000356884.10:c.2065C>G ENSP00000349351.6:p.Gln689Glu
ENST00000375512.3:c.2065C>G ENSP00000364662.3:p.Gln689Glu
NM_001003800.1:c.2065C>G NP_001003800.1:p.Gln689Glu
NM_015250.3:c.2065C>G NP_056065.1:p.Gln689Glu
XM_017014551.1:c.2146C>G XP_016870040.1:p.Gln716Glu
NM_001003800.2:c.2065C>G MANE Select NP_001003800.1:p.Gln689Glu
NM_015250.4:c.2065C>G NP_056065.1:p.Gln689Glu
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