Canonical Allele Identifier: CA5126529

Gene: BICD2

Linked Data

• ClinVar Variation Id: 2976116
• ClinVar RCV Id: RCV003836266
• dbSNP Id: rs777745384
• ExAC: 9:95481391 G / A
• gnomAD v2: 9-95481391-G-A
• gnomAD v3: 9-92719109-G-A
• gnomAD v4: 9-92719109-G-A
• MyVariant Identifiers: chr9:g.95481391G>A (hg19) ; chr9:g.92719109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719109G>A , CM000671.2:g.92719109G>A	GRCh38
NC_000009.11:g.95481391G>A , CM000671.1:g.95481391G>A	GRCh37
NC_000009.10:g.94521212G>A	NCBI36
NG_033908.1:g.50693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1536C>T MANE Select	ENSP00000349351.6:p.Val512=
ENST00000356884.10:c.1536C>T	ENSP00000349351.6:p.Val512=
ENST00000375512.3:c.1536C>T	ENSP00000364662.3:p.Val512=
NM_001003800.1:c.1536C>T	NP_001003800.1:p.Val512=
NM_015250.3:c.1536C>T	NP_056065.1:p.Val512=
XM_017014551.1:c.1617C>T	XP_016870040.1:p.Val539=
NM_001003800.2:c.1536C>T MANE Select	NP_001003800.1:p.Val512=
NM_015250.4:c.1536C>T	NP_056065.1:p.Val512=