Canonical Allele Identifier: CA589579138
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 575432
ClinVar RCV Id: RCV000697649
dbSNP Id: rs1333312158
gnomAD v2: 9-95481200-TCGGGGCTGGTGCGGCCCC-T
gnomAD v3: 9-92718918-TCGGGGCTGGTGCGGCCCC-T
gnomAD v4: 9-92718918-TCGGGGCTGGTGCGGCCCC-T
MyVariant Identifiers: chr9:g.95481201_95481218del (hg19) chr9:g.92718919_92718936del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718923_92718940del , CM000671.2:g.92718923_92718940del GRCh38
NC_000009.11:g.95481205_95481222del , CM000671.1:g.95481205_95481222del GRCh37
NC_000009.10:g.94521026_94521043del NCBI36
NG_033908.1:g.50866_50883del

Transcript Alleles

HGVS Amino-acid change
ENST00000356884.11:c.1709_1726del MANE Select ENSP00000349351.6:p.Gly570_Pro575del
ENST00000356884.10:c.1709_1726del ENSP00000349351.6:p.Gly570_Pro575del
ENST00000375512.3:c.1709_1726del ENSP00000364662.3:p.Gly570_Pro575del
NM_001003800.1:c.1709_1726del NP_001003800.1:p.Gly570_Pro575del
NM_015250.3:c.1709_1726del NP_056065.1:p.Gly570_Pro575del
XM_017014551.1:c.1790_1807del XP_016870040.1:p.Gly597_Pro602del
NM_001003800.2:c.1709_1726del MANE Select NP_001003800.1:p.Gly570_Pro575del
NM_015250.4:c.1709_1726del NP_056065.1:p.Gly570_Pro575del
Search 100 bp 5'
Search 100 bp 3'