Canonical Allele Identifier: CA374034525
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 643137
ClinVar RCV Id: RCV000796773
dbSNP Id: rs1587668190
gnomAD v4: 9-92718648-T-G
MyVariant Identifiers: chr9:g.95480930T>G (hg19) chr9:g.92718648T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718648T>G , CM000671.2:g.92718648T>G GRCh38
NC_000009.11:g.95480930T>G , CM000671.1:g.95480930T>G GRCh37
NC_000009.10:g.94520751T>G NCBI36
NG_033908.1:g.51154A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1997A>C MANE Select ENSP00000349351.6:p.Asp666Ala
ENST00000356884.10:c.1997A>C ENSP00000349351.6:p.Asp666Ala
ENST00000375512.3:c.1997A>C ENSP00000364662.3:p.Asp666Ala
NM_001003800.1:c.1997A>C NP_001003800.1:p.Asp666Ala
NM_015250.3:c.1997A>C NP_056065.1:p.Asp666Ala
XM_017014551.1:c.2078A>C XP_016870040.1:p.Asp693Ala
NM_001003800.2:c.1997A>C MANE Select NP_001003800.1:p.Asp666Ala
NM_015250.4:c.1997A>C NP_056065.1:p.Asp666Ala
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