Canonical Allele Identifier: CA374036237

Gene: BICD2

Linked Data

• ClinVar Variation Id: 1951819
• ClinVar RCV Id: RCV002676510 ; RCV002676509
• dbSNP Id: rs1198107228
• gnomAD v2: 9-95481215-C-A
• gnomAD v3: 9-92718933-C-A
• gnomAD v4: 9-92718933-C-A
• MyVariant Identifiers: chr9:g.95481215C>A (hg19) ; chr9:g.92718933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718933C>A , CM000671.2:g.92718933C>A	GRCh38
NC_000009.11:g.95481215C>A , CM000671.1:g.95481215C>A	GRCh37
NC_000009.10:g.94521036C>A	NCBI36
NG_033908.1:g.50869G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.1712G>T MANE Select	ENSP00000349351.6:p.Gly571Val
ENST00000356884.10:c.1712G>T	ENSP00000349351.6:p.Gly571Val
ENST00000375512.3:c.1712G>T	ENSP00000364662.3:p.Gly571Val
NM_001003800.1:c.1712G>T	NP_001003800.1:p.Gly571Val
NM_015250.3:c.1712G>T	NP_056065.1:p.Gly571Val
XM_017014551.1:c.1793G>T	XP_016870040.1:p.Gly598Val
NM_001003800.2:c.1712G>T MANE Select	NP_001003800.1:p.Gly571Val
NM_015250.4:c.1712G>T	NP_056065.1:p.Gly571Val