Canonical Allele Identifier: CA5126619
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 453090
ClinVar RCV Id: RCV000519998 RCV001086401 RCV003159696
dbSNP Id: rs192669216
ExAC: 9:95481759 G / T
gnomAD v2: 9-95481759-G-T
gnomAD v3: 9-92719477-G-T
gnomAD v4: 9-92719477-G-T
MyVariant Identifiers: chr9:g.95481759G>T (hg19) chr9:g.92719477G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92719477G>T , CM000671.2:g.92719477G>T GRCh38
NC_000009.11:g.95481759G>T , CM000671.1:g.95481759G>T GRCh37
NC_000009.10:g.94521580G>T NCBI36
NG_033908.1:g.50325C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1168C>A MANE Select ENSP00000349351.6:p.Leu390Ile
ENST00000356884.10:c.1168C>A ENSP00000349351.6:p.Leu390Ile
ENST00000375512.3:c.1168C>A ENSP00000364662.3:p.Leu390Ile
NM_001003800.1:c.1168C>A NP_001003800.1:p.Leu390Ile
NM_015250.3:c.1168C>A NP_056065.1:p.Leu390Ile
XM_017014551.1:c.1249C>A XP_016870040.1:p.Leu417Ile
NM_001003800.2:c.1168C>A MANE Select NP_001003800.1:p.Leu390Ile
NM_015250.4:c.1168C>A NP_056065.1:p.Leu390Ile
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