Canonical Allele Identifier: CA346764654

Gene: FBXO11

Linked Data

• ClinVar Variation Id: 2441396
• ClinVar RCV Id: RCV003147225
• MyVariant Identifiers: chr2:g.48050291G>C (hg19) ; chr2:g.47823152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47823152G>C , CM000664.2:g.47823152G>C	GRCh38
NC_000002.11:g.48050291G>C , CM000664.1:g.48050291G>C	GRCh37
NC_000002.10:g.47903795G>C	NCBI36
NG_008397.1:g.87524C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681999.1:n.1484C>G
ENST00000682451.1:n.1453C>G
ENST00000682975.1:n.1502C>G
ENST00000683894.1:c.1355C>G	ENSP00000507789.1:p.Pro452Arg
ENST00000684085.1:n.1484C>G
ENST00000684712.1:n.1715C>G
ENST00000403359.8:c.1607C>G MANE Select	ENSP00000384823.4:p.Pro536Arg
ENST00000316377.8:c.1373C>G	ENSP00000323822.5:p.Pro458Arg
ENST00000402508.5:c.1355C>G	ENSP00000385398.1:p.Pro452Arg
ENST00000403359.7:c.1607C>G	ENSP00000384823.3:p.Pro536Arg
ENST00000492225.5:n.1455C>G
ENST00000493962.6:c.981C>G
NM_001190274.1:c.1607C>G	NP_001177203.1:p.Pro536Arg
NM_025133.4:c.1355C>G	NP_079409.3:p.Pro452Arg
XM_005264572.3:c.1607C>G	XP_005264629.1:p.Pro536Arg
XM_005264573.3:c.1604C>G	XP_005264630.1:p.Pro535Arg
XM_005264572.5:c.1607C>G	XP_005264629.1:p.Pro536Arg
XM_005264573.5:c.1604C>G	XP_005264630.1:p.Pro535Arg
XM_017005015.1:c.1604C>G	XP_016860504.1:p.Pro535Arg
XM_017005016.2:c.1355C>G	XP_016860505.1:p.Pro452Arg
XM_017005017.1:c.1355C>G	XP_016860506.1:p.Pro452Arg
NM_001190274.2:c.1607C>G MANE Select	NP_001177203.1:p.Pro536Arg
NM_001374325.1:c.1355C>G	NP_001361254.1:p.Pro452Arg