Canonical Allele Identifier: CA5126429
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1169725
ClinVar RCV Id: RCV001521413
dbSNP Id: rs200086216
ExAC: 9:95480915 G / A
gnomAD v2: 9-95480915-G-A
gnomAD v3: 9-92718633-G-A
gnomAD v4: 9-92718633-G-A
COSMIC: COSM4665705 COSM4665706
MyVariant Identifiers: chr9:g.95480915G>A (hg19) chr9:g.92718633G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718633G>A , CM000671.2:g.92718633G>A GRCh38
NC_000009.11:g.95480915G>A , CM000671.1:g.95480915G>A GRCh37
NC_000009.10:g.94520736G>A NCBI36
NG_033908.1:g.51169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2012C>T MANE Select ENSP00000349351.6:p.Ala671Val
ENST00000356884.10:c.2012C>T ENSP00000349351.6:p.Ala671Val
ENST00000375512.3:c.2012C>T ENSP00000364662.3:p.Ala671Val
NM_001003800.1:c.2012C>T NP_001003800.1:p.Ala671Val
NM_015250.3:c.2012C>T NP_056065.1:p.Ala671Val
XM_017014551.1:c.2093C>T XP_016870040.1:p.Ala698Val
NM_001003800.2:c.2012C>T MANE Select NP_001003800.1:p.Ala671Val
NM_015250.4:c.2012C>T NP_056065.1:p.Ala671Val
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Search 100 bp 3'