Canonical Allele Identifier: CA374037275
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 578721
ClinVar RCV Id: RCV000701818
dbSNP Id: rs1286725301
gnomAD v2: 9-95481366-T-C
gnomAD v4: 9-92719084-T-C
COSMIC: COSM6392456 COSM6392457
MyVariant Identifiers: chr9:g.95481366T>C (hg19) chr9:g.92719084T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719084T>C , CM000671.2:g.92719084T>C GRCh38
NC_000009.11:g.95481366T>C , CM000671.1:g.95481366T>C GRCh37
NC_000009.10:g.94521187T>C NCBI36
NG_033908.1:g.50718A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1561A>G MANE Select ENSP00000349351.6:p.Ser521Gly
ENST00000356884.10:c.1561A>G ENSP00000349351.6:p.Ser521Gly
ENST00000375512.3:c.1561A>G ENSP00000364662.3:p.Ser521Gly
NM_001003800.1:c.1561A>G NP_001003800.1:p.Ser521Gly
NM_015250.3:c.1561A>G NP_056065.1:p.Ser521Gly
XM_017014551.1:c.1642A>G XP_016870040.1:p.Ser548Gly
NM_001003800.2:c.1561A>G MANE Select NP_001003800.1:p.Ser521Gly
NM_015250.4:c.1561A>G NP_056065.1:p.Ser521Gly
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