Canonical Allele Identifier: CA374034330

Gene: BICD2

Linked Data

• ClinVar Variation Id: 2789797
• ClinVar RCV Id: RCV003741476
• MyVariant Identifiers: chr9:g.95480910T>C (hg19) ; chr9:g.92718628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718628T>C , CM000671.2:g.92718628T>C	GRCh38
NC_000009.11:g.95480910T>C , CM000671.1:g.95480910T>C	GRCh37
NC_000009.10:g.94520731T>C	NCBI36
NG_033908.1:g.51174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356884.11:c.2017A>G MANE Select	ENSP00000349351.6:p.Met673Val
ENST00000356884.10:c.2017A>G	ENSP00000349351.6:p.Met673Val
ENST00000375512.3:c.2017A>G	ENSP00000364662.3:p.Met673Val
NM_001003800.1:c.2017A>G	NP_001003800.1:p.Met673Val
NM_015250.3:c.2017A>G	NP_056065.1:p.Met673Val
XM_017014551.1:c.2098A>G	XP_016870040.1:p.Met700Val
NM_001003800.2:c.2017A>G MANE Select	NP_001003800.1:p.Met673Val
NM_015250.4:c.2017A>G	NP_056065.1:p.Met673Val