Canonical Allele Identifier: CA374036604

Gene: BICD2

Linked Data

• ClinVar Variation Id: 579488
• ClinVar RCV Id: RCV000702787
• dbSNP Id: rs1370503586
• gnomAD v2: 9-95481290-T-C
• gnomAD v4: 9-92719008-T-C
• COSMIC: COSM5966364 ; COSM5966365
• MyVariant Identifiers: chr9:g.95481290T>C (hg19) ; chr9:g.92719008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92719008T>C , CM000671.2:g.92719008T>C	GRCh38
NC_000009.11:g.95481290T>C , CM000671.1:g.95481290T>C	GRCh37
NC_000009.10:g.94521111T>C	NCBI36
NG_033908.1:g.50794A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356884.11:c.1637A>G MANE Select	ENSP00000349351.6:p.Asn546Ser
ENST00000356884.10:c.1637A>G	ENSP00000349351.6:p.Asn546Ser
ENST00000375512.3:c.1637A>G	ENSP00000364662.3:p.Asn546Ser
NM_001003800.1:c.1637A>G	NP_001003800.1:p.Asn546Ser
NM_015250.3:c.1637A>G	NP_056065.1:p.Asn546Ser
XM_017014551.1:c.1718A>G	XP_016870040.1:p.Asn573Ser
NM_001003800.2:c.1637A>G MANE Select	NP_001003800.1:p.Asn546Ser
NM_015250.4:c.1637A>G	NP_056065.1:p.Asn546Ser