Canonical Allele Identifier: CA374038608
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 655140
ClinVar RCV Id: RCV000811255
dbSNP Id: rs376220375

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719276G>T , CM000671.2:g.92719276G>T GRCh38
NC_000009.11:g.95481558G>T , CM000671.1:g.95481558G>T GRCh37
NC_000009.10:g.94521379G>T NCBI36
NG_033908.1:g.50526C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1369C>A MANE Select ENSP00000349351.6:p.Arg457Ser
ENST00000356884.10:c.1369C>A ENSP00000349351.6:p.Arg457Ser
ENST00000375512.3:c.1369C>A ENSP00000364662.3:p.Arg457Ser
NM_001003800.1:c.1369C>A NP_001003800.1:p.Arg457Ser
NM_015250.3:c.1369C>A NP_056065.1:p.Arg457Ser
XM_017014551.1:c.1450C>A XP_016870040.1:p.Arg484Ser
NM_001003800.2:c.1369C>A MANE Select NP_001003800.1:p.Arg457Ser
NM_015250.4:c.1369C>A NP_056065.1:p.Arg457Ser