Canonical Allele Identifier: CA5126503
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 843833
ClinVar RCV Id: RCV001046535 RCV003145284
dbSNP Id: rs777902159
ExAC: 9:95481212 C / T
gnomAD v2: 9-95481212-C-T
gnomAD v3: 9-92718930-C-T
gnomAD v4: 9-92718930-C-T
COSMIC: COSM390894
MyVariant Identifiers: chr9:g.95481212C>T (hg19) chr9:g.92718930C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718930C>T , CM000671.2:g.92718930C>T GRCh38
NC_000009.11:g.95481212C>T , CM000671.1:g.95481212C>T GRCh37
NC_000009.10:g.94521033C>T NCBI36
NG_033908.1:g.50872G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1715G>A MANE Select ENSP00000349351.6:p.Arg572His
ENST00000356884.10:c.1715G>A ENSP00000349351.6:p.Arg572His
ENST00000375512.3:c.1715G>A ENSP00000364662.3:p.Arg572His
NM_001003800.1:c.1715G>A NP_001003800.1:p.Arg572His
NM_015250.3:c.1715G>A NP_056065.1:p.Arg572His
XM_017014551.1:c.1796G>A XP_016870040.1:p.Arg599His
NM_001003800.2:c.1715G>A MANE Select NP_001003800.1:p.Arg572His
NM_015250.4:c.1715G>A NP_056065.1:p.Arg572His
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