Canonical Allele Identifier: CA9563835

Gene: RUVBL2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49010016C>G , CM000681.2:g.49010016C>G	GRCh38
NC_000019.9:g.49513273C>G , CM000681.1:g.49513273C>G	GRCh37
NC_000019.8:g.54205085C>G	NCBI36
NG_033041.1:g.21118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595090.6:c.613C>G MANE Select	ENSP00000473172.1:p.Leu205Val
ENST00000221413.10:c.602C>G	ENSP00000221413.6:p.Ala201Gly
ENST00000594017.5:n.635C>G
ENST00000594338.1:n.601C>G
ENST00000595090.5:c.613C>G	ENSP00000473172.1:p.Leu205Val
ENST00000596247.5:c.*530C>G	ENSP00000471538.1:n.*530C>G
ENST00000601968.5:c.478C>G	ENSP00000471524.1:p.Leu160Val
ENST00000627972.1:c.478C>G	ENSP00000486242.1:p.Leu160Val
NM_006666.1:c.613C>G	NP_006657.1:p.Leu205Val
XM_005258426.2:c.511C>G	XP_005258483.1:p.Leu171Val
XM_005258427.1:c.511C>G	XP_005258484.1:p.Leu171Val
XM_005258428.2:c.478C>G	XP_005258485.1:p.Leu160Val
XM_011526330.1:c.478C>G	XP_011524632.1:p.Leu160Val
NM_001321190.1:c.511C>G	NP_001308119.1:p.Leu171Val
NM_001321191.1:c.478C>G	NP_001308120.1:p.Leu160Val
NM_006666.2:c.613C>G	NP_006657.1:p.Leu205Val
NR_135578.1:n.1066C>G
NM_006666.3:c.613C>G MANE Select	NP_006657.1:p.Leu205Val
NM_001321190.2:c.511C>G	NP_001308119.1:p.Leu171Val
NR_135578.2:n.627C>G