Canonical Allele Identifier: CA374039909
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2169655
ClinVar RCV Id: RCV003100668
dbSNP Id: rs1281358234
gnomAD v2: 9-95481723-C-T
gnomAD v4: 9-92719441-C-T
MyVariant Identifiers: chr9:g.95481723C>T (hg19) chr9:g.92719441C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719441C>T , CM000671.2:g.92719441C>T GRCh38
NC_000009.11:g.95481723C>T , CM000671.1:g.95481723C>T GRCh37
NC_000009.10:g.94521544C>T NCBI36
NG_033908.1:g.50361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1204G>A MANE Select ENSP00000349351.6:p.Ala402Thr
ENST00000356884.10:c.1204G>A ENSP00000349351.6:p.Ala402Thr
ENST00000375512.3:c.1204G>A ENSP00000364662.3:p.Ala402Thr
NM_001003800.1:c.1204G>A NP_001003800.1:p.Ala402Thr
NM_015250.3:c.1204G>A NP_056065.1:p.Ala402Thr
XM_017014551.1:c.1285G>A XP_016870040.1:p.Ala429Thr
NM_001003800.2:c.1204G>A MANE Select NP_001003800.1:p.Ala402Thr
NM_015250.4:c.1204G>A NP_056065.1:p.Ala402Thr
Search 100 bp 5'
Search 100 bp 3'