Canonical Allele Identifier: CA374037723
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2836267
ClinVar RCV Id: RCV003741996

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719144G>C , CM000671.2:g.92719144G>C GRCh38
NC_000009.11:g.95481426G>C , CM000671.1:g.95481426G>C GRCh37
NC_000009.10:g.94521247G>C NCBI36
NG_033908.1:g.50658C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1501C>G MANE Select ENSP00000349351.6:p.Arg501Gly
ENST00000356884.10:c.1501C>G ENSP00000349351.6:p.Arg501Gly
ENST00000375512.3:c.1501C>G ENSP00000364662.3:p.Arg501Gly
NM_001003800.1:c.1501C>G NP_001003800.1:p.Arg501Gly
NM_015250.3:c.1501C>G NP_056065.1:p.Arg501Gly
XM_017014551.1:c.1582C>G XP_016870040.1:p.Arg528Gly
NM_001003800.2:c.1501C>G MANE Select NP_001003800.1:p.Arg501Gly
NM_015250.4:c.1501C>G NP_056065.1:p.Arg501Gly