Canonical Allele Identifier: CA5126297
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 386265
ClinVar RCV Id: RCV000432556 RCV000536962 RCV001698242 RCV002446704 RCV003959941
dbSNP Id: rs34451610
ExAC: 9:95477559 C / T
gnomAD v2: 9-95477559-C-T
gnomAD v3: 9-92715277-C-T
gnomAD v4: 9-92715277-C-T
MyVariant Identifiers: chr9:g.95477559C>T (hg19) chr9:g.92715277C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92715277C>T , CM000671.2:g.92715277C>T GRCh38
NC_000009.11:g.95477559C>T , CM000671.1:g.95477559C>T GRCh37
NC_000009.10:g.94517380C>T NCBI36
NG_033908.1:g.54525G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2445G>A MANE Select ENSP00000349351.6:p.Pro815=
ENST00000356884.10:c.2445G>A ENSP00000349351.6:p.Pro815=
ENST00000375512.3:c.2445G>A ENSP00000364662.3:p.Pro815=
NM_001003800.1:c.2445G>A NP_001003800.1:p.Pro815=
NM_015250.3:c.2445G>A NP_056065.1:p.Pro815=
XM_017014551.1:c.2526G>A XP_016870040.1:p.Pro842=
NM_001003800.2:c.2445G>A MANE Select NP_001003800.1:p.Pro815=
NM_015250.4:c.2445G>A NP_056065.1:p.Pro815=
Search 100 bp 5'
Search 100 bp 3'