Canonical Allele Identifier: CA589579136
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1237911288
gnomAD v2: 9-95480875-GC-G
MyVariant Identifiers: chr9:g.95480876del (hg19) chr9:g.92718594del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718594del , CM000671.2:g.92718594del GRCh38
NC_000009.11:g.95480876del , CM000671.1:g.95480876del GRCh37
NC_000009.10:g.94520697del NCBI36
NG_033908.1:g.51208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.2051del MANE Select ENSP00000349351.6:p.Ser684ThrfsTer28
ENST00000356884.10:c.2051del ENSP00000349351.6:p.Ser684ThrfsTer28
ENST00000375512.3:c.2051del ENSP00000364662.3:p.Ser684ThrfsTer28
NM_001003800.1:c.2051del NP_001003800.1:p.Ser684ThrfsTer28
NM_015250.3:c.2051del NP_056065.1:p.Ser684ThrfsTer28
XM_017014551.1:c.2132del XP_016870040.1:p.Ser711ThrfsTer28
NM_001003800.2:c.2051del MANE Select NP_001003800.1:p.Ser684ThrfsTer28
NM_015250.4:c.2051del NP_056065.1:p.Ser684ThrfsTer28
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