Canonical Allele Identifier: CA374034006

Gene: BICD2

Linked Data

• ClinVar Variation Id: 1018827
• ClinVar RCV Id: RCV001318183
• dbSNP Id: rs376312313
• MyVariant Identifiers: chr9:g.95480869C>A (hg19) ; chr9:g.92718587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718587C>A , CM000671.2:g.92718587C>A	GRCh38
NC_000009.11:g.95480869C>A , CM000671.1:g.95480869C>A	GRCh37
NC_000009.10:g.94520690C>A	NCBI36
NG_033908.1:g.51215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2058G>T MANE Select	ENSP00000349351.6:p.Lys686Asn
ENST00000356884.10:c.2058G>T	ENSP00000349351.6:p.Lys686Asn
ENST00000375512.3:c.2058G>T	ENSP00000364662.3:p.Lys686Asn
NM_001003800.1:c.2058G>T	NP_001003800.1:p.Lys686Asn
NM_015250.3:c.2058G>T	NP_056065.1:p.Lys686Asn
XM_017014551.1:c.2139G>T	XP_016870040.1:p.Lys713Asn
NM_001003800.2:c.2058G>T MANE Select	NP_001003800.1:p.Lys686Asn
NM_015250.4:c.2058G>T	NP_056065.1:p.Lys686Asn