Canonical Allele Identifier: CA374037039
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 949380
ClinVar RCV Id: RCV001220829
dbSNP Id: rs908773556
gnomAD v2: 9-95481345-C-A
gnomAD v4: 9-92719063-C-A
MyVariant Identifiers: chr9:g.95481345C>A (hg19) chr9:g.92719063C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719063C>A , CM000671.2:g.92719063C>A GRCh38
NC_000009.11:g.95481345C>A , CM000671.1:g.95481345C>A GRCh37
NC_000009.10:g.94521166C>A NCBI36
NG_033908.1:g.50739G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1582G>T MANE Select ENSP00000349351.6:p.Val528Leu
ENST00000356884.10:c.1582G>T ENSP00000349351.6:p.Val528Leu
ENST00000375512.3:c.1582G>T ENSP00000364662.3:p.Val528Leu
NM_001003800.1:c.1582G>T NP_001003800.1:p.Val528Leu
NM_015250.3:c.1582G>T NP_056065.1:p.Val528Leu
XM_017014551.1:c.1663G>T XP_016870040.1:p.Val555Leu
NM_001003800.2:c.1582G>T MANE Select NP_001003800.1:p.Val528Leu
NM_015250.4:c.1582G>T NP_056065.1:p.Val528Leu
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