Canonical Allele Identifier: CA16618869
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422408
dbSNP Id: rs1064795760

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719007_92719009del , CM000671.2:g.92719007_92719009del GRCh38
NC_000009.11:g.95481289_95481291del , CM000671.1:g.95481289_95481291del GRCh37
NC_000009.10:g.94521110_94521112del NCBI36
NG_033908.1:g.50793_50795del

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1636_1638del MANE Select ENSP00000349351.6:p.Asn546del
ENST00000356884.10:c.1636_1638del ENSP00000349351.6:p.Asn546del
ENST00000375512.3:c.1636_1638del ENSP00000364662.3:p.Asn546del
NM_001003800.1:c.1636_1638del NP_001003800.1:p.Asn546del
NM_015250.3:c.1636_1638del NP_056065.1:p.Asn546del
XM_017014551.1:c.1717_1719del XP_016870040.1:p.Asn573del
NM_001003800.2:c.1636_1638del MANE Select NP_001003800.1:p.Asn546del
NM_015250.4:c.1636_1638del NP_056065.1:p.Asn546del