Canonical Allele Identifier: CA16618867
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419443
ClinVar RCV Id: RCV000486449
dbSNP Id: rs1064793875

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92717824G>A , CM000671.2:g.92717824G>A GRCh38
NC_000009.11:g.95480106G>A , CM000671.1:g.95480106G>A GRCh37
NC_000009.10:g.94519927G>A NCBI36
NG_033908.1:g.51978C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.2231C>T MANE Select ENSP00000349351.6:p.Ser744Phe
ENST00000356884.10:c.2231C>T ENSP00000349351.6:p.Ser744Phe
ENST00000375512.3:c.2231C>T ENSP00000364662.3:p.Ser744Phe
NM_001003800.1:c.2231C>T NP_001003800.1:p.Ser744Phe
NM_015250.3:c.2231C>T NP_056065.1:p.Ser744Phe
XM_017014551.1:c.2312C>T XP_016870040.1:p.Ser771Phe
NM_001003800.2:c.2231C>T MANE Select NP_001003800.1:p.Ser744Phe
NM_015250.4:c.2231C>T NP_056065.1:p.Ser744Phe