Canonical Allele Identifier: CA374033582

Gene: BICD2

Linked Data

• ClinVar Variation Id: 1707086
• ClinVar RCV Id: RCV002286002
• MyVariant Identifiers: chr9:g.95480827G>C (hg19) ; chr9:g.92718545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718545G>C , CM000671.2:g.92718545G>C	GRCh38
NC_000009.11:g.95480827G>C , CM000671.1:g.95480827G>C	GRCh37
NC_000009.10:g.94520648G>C	NCBI36
NG_033908.1:g.51257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2100C>G MANE Select	ENSP00000349351.6:p.Asn700Lys
ENST00000356884.10:c.2100C>G	ENSP00000349351.6:p.Asn700Lys
ENST00000375512.3:c.2100C>G	ENSP00000364662.3:p.Asn700Lys
NM_001003800.1:c.2100C>G	NP_001003800.1:p.Asn700Lys
NM_015250.3:c.2100C>G	NP_056065.1:p.Asn700Lys
XM_017014551.1:c.2181C>G	XP_016870040.1:p.Asn727Lys
NM_001003800.2:c.2100C>G MANE Select	NP_001003800.1:p.Asn700Lys
NM_015250.4:c.2100C>G	NP_056065.1:p.Asn700Lys