Canonical Allele Identifier: CA1371869
Gene: CD46 HGNC NCBI
MIR29B2CHG HGNC NCBI

Linked Data

ClinVar Variation Id: 294975
dbSNP Id: rs35366573
COSMIC: COSM33621

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207785101C>T , CM000663.2:g.207785101C>T GRCh38
NC_000001.10:g.207958446C>T , CM000663.1:g.207958446C>T GRCh37
NC_000001.9:g.206025069C>T NCBI36
NG_009296.1:g.38045C>T , LRG_155:g.38045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490278.2:n.2187C>T (CD46)
ENST00000496723.2:n.1764C>T (CD46)
ENST00000636114.2:n.2706C>T (CD46)
ENST00000695777.1:c.1013C>T (CD46) ENSP00000512167.1:p.Ala338Val
ENST00000695778.1:c.968C>T (CD46) ENSP00000512168.1:p.Ala323Val
ENST00000695779.1:n.1730C>T (CD46)
ENST00000695780.1:c.938-555C>T (CD46) ENSP00000512169.1:n.938-555C>T
ENST00000695781.1:c.*96C>T (CD46) ENSP00000512170.1:n.*96C>T
ENST00000695782.1:c.968C>T (CD46) ENSP00000512171.1:p.Ala323Val
ENST00000695783.1:n.4381C>T (CD46)
ENST00000695784.1:c.*139C>T (CD46) ENSP00000512172.1:n.*139C>T
ENST00000695786.1:n.935C>T (CD46)
ENST00000695787.1:n.2371C>T (CD46)
ENST00000695788.1:n.592C>T (CD46)
ENST00000695789.1:n.2264C>T (CD46)
ENST00000695790.1:n.2253C>T (CD46)
ENST00000367042.6:c.1013C>T (CD46) MANE Select ENSP00000356009.1:p.Ala338Val
ENST00000636114.1:n.767C>T (CD46)
ENST00000322875.8:c.1058C>T (CD46) ENSP00000313875.4:p.Ala353Val
ENST00000322918.9:c.968C>T (CD46) ENSP00000314664.5:p.Ala323Val
ENST00000354848.5:c.1013C>T (CD46) ENSP00000346912.1:p.Ala338Val
ENST00000357714.5:c.968C>T (CD46) ENSP00000350346.1:p.Ala323Val
ENST00000358170.6:c.1058C>T (CD46) ENSP00000350893.2:p.Ala353Val
ENST00000360212.6:c.926C>T (CD46) ENSP00000353342.2:p.Ala309Val
ENST00000367041.5:c.968C>T (CD46) ENSP00000356008.1:p.Ala323Val
ENST00000367042.5:c.1013C>T (CD46) ENSP00000356009.1:p.Ala338Val
ENST00000367047.5:c.869C>T (CD46) ENSP00000356014.1:p.Ala290Val
ENST00000462968.2:c.94C>T (CD46)
ENST00000469535.5:n.5762C>T (CD46)
ENST00000471987.1:n.123C>T (CD46)
ENST00000480003.5:c.971C>T (CD46) ENSP00000418471.1:p.Ala324Val
ENST00000488596.5:n.392C>T (CD46)
NM_002389.4:c.1058C>T , LRG_155t1:c.1058C>T (CD46) NP_002380.3:p.Ala353Val
NM_153826.3:c.1013C>T (CD46) NP_722548.1:p.Ala338Val
NM_172350.2:c.968C>T (CD46) NP_758860.1:p.Ala323Val
NM_172351.2:c.1013C>T (CD46) NP_758861.1:p.Ala338Val
NM_172352.2:c.968C>T (CD46) NP_758862.1:p.Ala323Val
NM_172353.2:c.968C>T (CD46) NP_758863.1:p.Ala323Val
NM_172359.2:c.1058C>T (CD46) NP_758869.1:p.Ala353Val
NM_172361.2:c.926C>T (CD46) NP_758871.1:p.Ala309Val
XM_011509563.1:c.1016C>T (CD46) XP_011507865.1:p.Ala339Val
XM_011509564.1:c.971C>T (CD46) XP_011507866.1:p.Ala324Val
XR_922496.1:n.7666+20904G>A (MIR29B2CHG)
XR_922497.1:n.6306-22113G>A (MIR29B2CHG)
NM_172355.2:c.971C>T (CD46) NP_758865.1:p.Ala324Val
NM_172356.2:c.971C>T (CD46) NP_758866.1:p.Ala324Val
NM_172357.2:c.926C>T (CD46) NP_758867.1:p.Ala309Val
NM_172358.2:c.1013C>T (CD46) NP_758868.1:p.Ala338Val
XM_011509563.2:c.1016C>T (CD46) XP_011507865.1:p.Ala339Val
XM_017001308.2:c.1016C>T (CD46) XP_016856797.1:p.Ala339Val
XR_001737177.2:n.2164C>T (CD46)
XR_002956621.1:n.2702C>T (CD46)
XR_002956622.1:n.2702C>T (CD46)
NM_153826.4:c.1013C>T (CD46) NP_722548.1:p.Ala338Val
NM_172350.3:c.968C>T (CD46) NP_758860.1:p.Ala323Val
NM_172351.3:c.1013C>T (CD46) MANE Select NP_758861.1:p.Ala338Val
NM_172352.3:c.968C>T (CD46) NP_758862.1:p.Ala323Val
NM_172353.3:c.968C>T (CD46) NP_758863.1:p.Ala323Val
NM_172355.3:c.971C>T (CD46) NP_758865.1:p.Ala324Val
NM_172356.3:c.971C>T (CD46) NP_758866.1:p.Ala324Val
NM_172357.3:c.926C>T (CD46) NP_758867.1:p.Ala309Val
NM_172358.3:c.1013C>T (CD46) NP_758868.1:p.Ala338Val
NM_172359.3:c.1058C>T (CD46) NP_758869.1:p.Ala353Val
NM_172361.3:c.926C>T (CD46) NP_758871.1:p.Ala309Val