Canonical Allele Identifier: CA374033579

Gene: BICD2

Linked Data

• ClinVar Variation Id: 3233668
• ClinVar RCV Id: RCV004526518
• gnomAD v4: 9-92718545-G-T
• MyVariant Identifiers: chr9:g.95480827G>T (hg19) ; chr9:g.92718545G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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