Canonical Allele Identifier: CA374034593
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1224221873
gnomAD v2: 9-95480942-C-A
gnomAD v4: 9-92718660-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718660C>A , CM000671.2:g.92718660C>A GRCh38
NC_000009.11:g.95480942C>A , CM000671.1:g.95480942C>A GRCh37
NC_000009.10:g.94520763C>A NCBI36
NG_033908.1:g.51142G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1985G>T MANE Select ENSP00000349351.6:p.Gly662Val
ENST00000356884.10:c.1985G>T ENSP00000349351.6:p.Gly662Val
ENST00000375512.3:c.1985G>T ENSP00000364662.3:p.Gly662Val
NM_001003800.1:c.1985G>T NP_001003800.1:p.Gly662Val
NM_015250.3:c.1985G>T NP_056065.1:p.Gly662Val
XM_017014551.1:c.2066G>T XP_016870040.1:p.Gly689Val
NM_001003800.2:c.1985G>T MANE Select NP_001003800.1:p.Gly662Val
NM_015250.4:c.1985G>T NP_056065.1:p.Gly662Val