Canonical Allele Identifier: CA204791
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208737
ClinVar RCV Id: RCV000190756
dbSNP Id: rs797044920

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719056A>G , CM000671.2:g.92719056A>G GRCh38
NC_000009.11:g.95481338A>G , CM000671.1:g.95481338A>G GRCh37
NC_000009.10:g.94521159A>G NCBI36
NG_033908.1:g.50746T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1589T>C MANE Select ENSP00000349351.6:p.Phe530Ser
ENST00000356884.10:c.1589T>C ENSP00000349351.6:p.Phe530Ser
ENST00000375512.3:c.1589T>C ENSP00000364662.3:p.Phe530Ser
NM_001003800.1:c.1589T>C NP_001003800.1:p.Phe530Ser
NM_015250.3:c.1589T>C NP_056065.1:p.Phe530Ser
XM_017014551.1:c.1670T>C XP_016870040.1:p.Phe557Ser
NM_001003800.2:c.1589T>C MANE Select NP_001003800.1:p.Phe530Ser
NM_015250.4:c.1589T>C NP_056065.1:p.Phe530Ser