Canonical Allele Identifier: CA2739269405
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2905712
ClinVar RCV Id: RCV003740866
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718951_92718974del , CM000671.2:g.92718951_92718974del GRCh38
NC_000009.11:g.95481233_95481256del , CM000671.1:g.95481233_95481256del GRCh37
NC_000009.10:g.94521054_94521077del NCBI36
NG_033908.1:g.50832_50855del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1675_1698del MANE Select ENSP00000349351.6:p.Glu559_Arg566del
ENST00000356884.10:c.1675_1698del ENSP00000349351.6:p.Glu559_Arg566del
ENST00000375512.3:c.1675_1698del ENSP00000364662.3:p.Glu559_Arg566del
NM_001003800.1:c.1675_1698del NP_001003800.1:p.Glu559_Arg566del
NM_015250.3:c.1675_1698del NP_056065.1:p.Glu559_Arg566del
XM_017014551.1:c.1756_1779del XP_016870040.1:p.Glu586_Arg593del
NM_001003800.2:c.1675_1698del MANE Select NP_001003800.1:p.Glu559_Arg566del
NM_015250.4:c.1675_1698del NP_056065.1:p.Glu559_Arg566del
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Search 100 bp 3'