Canonical Allele Identifier: CA374039993
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs749831276
gnomAD v3: 9-92719452-C-G
gnomAD v4: 9-92719452-C-G
MyVariant Identifiers: chr9:g.95481734C>G (hg19) chr9:g.92719452C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719452C>G , CM000671.2:g.92719452C>G GRCh38
NC_000009.11:g.95481734C>G , CM000671.1:g.95481734C>G GRCh37
NC_000009.10:g.94521555C>G NCBI36
NG_033908.1:g.50350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1193G>C MANE Select ENSP00000349351.6:p.Arg398Pro
ENST00000356884.10:c.1193G>C ENSP00000349351.6:p.Arg398Pro
ENST00000375512.3:c.1193G>C ENSP00000364662.3:p.Arg398Pro
NM_001003800.1:c.1193G>C NP_001003800.1:p.Arg398Pro
NM_015250.3:c.1193G>C NP_056065.1:p.Arg398Pro
XM_017014551.1:c.1274G>C XP_016870040.1:p.Arg425Pro
NM_001003800.2:c.1193G>C MANE Select NP_001003800.1:p.Arg398Pro
NM_015250.4:c.1193G>C NP_056065.1:p.Arg398Pro
Search 100 bp 5'
Search 100 bp 3'