Canonical Allele Identifier: CA5126619

Gene: BICD2

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)

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