Canonical Allele Identifier: CA5126494

Gene: BICD2

Linked Data

• ClinVar Variation Id: 2913564
• ClinVar RCV Id: RCV003740993
• dbSNP Id: rs541558181
• ExAC: 9:95481195 G / C
• gnomAD v2: 9-95481195-G-C
• gnomAD v4: 9-92718913-G-C
• MyVariant Identifiers: chr9:g.95481195G>C (hg19) ; chr9:g.92718913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92718913G>C , CM000671.2:g.92718913G>C	GRCh38
NC_000009.11:g.95481195G>C , CM000671.1:g.95481195G>C	GRCh37
NC_000009.10:g.94521016G>C	NCBI36
NG_033908.1:g.50889C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356884.11:c.1732C>G MANE Select	ENSP00000349351.6:p.Arg578Gly
ENST00000356884.10:c.1732C>G	ENSP00000349351.6:p.Arg578Gly
ENST00000375512.3:c.1732C>G	ENSP00000364662.3:p.Arg578Gly
NM_001003800.1:c.1732C>G	NP_001003800.1:p.Arg578Gly
NM_015250.3:c.1732C>G	NP_056065.1:p.Arg578Gly
XM_017014551.1:c.1813C>G	XP_016870040.1:p.Arg605Gly
NM_001003800.2:c.1732C>G MANE Select	NP_001003800.1:p.Arg578Gly
NM_015250.4:c.1732C>G	NP_056065.1:p.Arg578Gly