Canonical Allele Identifier: CA2695201604
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632992
ClinVar RCV Id: RCV003408397

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718656_92718715del , CM000671.2:g.92718656_92718715del GRCh38
NC_000009.11:g.95480938_95480997del , CM000671.1:g.95480938_95480997del GRCh37
NC_000009.10:g.94520759_94520818del NCBI36
NG_033908.1:g.51096_51155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1939_1998del MANE Select ENSP00000349351.6:p.Arg647_Asp666del
ENST00000356884.10:c.1939_1998del ENSP00000349351.6:p.Arg647_Asp666del
ENST00000375512.3:c.1939_1998del ENSP00000364662.3:p.Arg647_Asp666del
NM_001003800.1:c.1939_1998del NP_001003800.1:p.Arg647_Asp666del
NM_015250.3:c.1939_1998del NP_056065.1:p.Arg647_Asp666del
XM_017014551.1:c.2020_2079del XP_016870040.1:p.Arg674_Asp693del
NM_001003800.2:c.1939_1998del MANE Select NP_001003800.1:p.Arg647_Asp666del
NM_015250.4:c.1939_1998del NP_056065.1:p.Arg647_Asp666del