Canonical Allele Identifier: CA5126570
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1386662
ClinVar RCV Id: RCV001875360
dbSNP Id: rs142503252
gnomAD v2: 9-95481546-C-T
gnomAD v3: 9-92719264-C-T
gnomAD v4: 9-92719264-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719264C>T , CM000671.2:g.92719264C>T GRCh38
NC_000009.11:g.95481546C>T , CM000671.1:g.95481546C>T GRCh37
NC_000009.10:g.94521367C>T NCBI36
NG_033908.1:g.50538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1381G>A MANE Select ENSP00000349351.6:p.Glu461Lys
ENST00000356884.10:c.1381G>A ENSP00000349351.6:p.Glu461Lys
ENST00000375512.3:c.1381G>A ENSP00000364662.3:p.Glu461Lys
NM_001003800.1:c.1381G>A NP_001003800.1:p.Glu461Lys
NM_015250.3:c.1381G>A NP_056065.1:p.Glu461Lys
XM_017014551.1:c.1462G>A XP_016870040.1:p.Glu488Lys
NM_001003800.2:c.1381G>A MANE Select NP_001003800.1:p.Glu461Lys
NM_015250.4:c.1381G>A NP_056065.1:p.Glu461Lys