Canonical Allele Identifier: CA344552723
Gene: CD46 HGNC NCBI
MIR29B2CHG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207785074T>A , CM000663.2:g.207785074T>A GRCh38
NC_000001.10:g.207958419T>A , CM000663.1:g.207958419T>A GRCh37
NC_000001.9:g.206025042T>A NCBI36
NG_009296.1:g.38018T>A , LRG_155:g.38018T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490278.2:n.2160T>A (CD46)
ENST00000496723.2:n.1737T>A (CD46)
ENST00000636114.2:n.2679T>A (CD46)
ENST00000695777.1:c.986T>A (CD46) ENSP00000512167.1:p.Val329Asp
ENST00000695778.1:c.941T>A (CD46) ENSP00000512168.1:p.Val314Asp
ENST00000695779.1:n.1703T>A (CD46)
ENST00000695780.1:c.938-582T>A (CD46) ENSP00000512169.1:n.938-582T>A
ENST00000695781.1:c.*69T>A (CD46) ENSP00000512170.1:n.*69T>A
ENST00000695782.1:c.941T>A (CD46) ENSP00000512171.1:p.Val314Asp
ENST00000695783.1:n.4354T>A (CD46)
ENST00000695784.1:c.*112T>A (CD46) ENSP00000512172.1:n.*112T>A
ENST00000695786.1:n.908T>A (CD46)
ENST00000695787.1:n.2344T>A (CD46)
ENST00000695788.1:n.565T>A (CD46)
ENST00000695789.1:n.2237T>A (CD46)
ENST00000695790.1:n.2226T>A (CD46)
ENST00000367042.6:c.986T>A (CD46) MANE Select ENSP00000356009.1:p.Val329Asp
ENST00000636114.1:n.740T>A (CD46)
ENST00000322875.8:c.1031T>A (CD46) ENSP00000313875.4:p.Val344Asp
ENST00000322918.9:c.941T>A (CD46) ENSP00000314664.5:p.Val314Asp
ENST00000354848.5:c.986T>A (CD46) ENSP00000346912.1:p.Val329Asp
ENST00000357714.5:c.941T>A (CD46) ENSP00000350346.1:p.Val314Asp
ENST00000358170.6:c.1031T>A (CD46) ENSP00000350893.2:p.Val344Asp
ENST00000360212.6:c.899T>A (CD46) ENSP00000353342.2:p.Val300Asp
ENST00000367041.5:c.941T>A (CD46) ENSP00000356008.1:p.Val314Asp
ENST00000367042.5:c.986T>A (CD46) ENSP00000356009.1:p.Val329Asp
ENST00000367047.5:c.842T>A (CD46) ENSP00000356014.1:p.Val281Asp
ENST00000462968.2:c.67T>A (CD46)
ENST00000469535.5:n.5735T>A (CD46)
ENST00000471987.1:n.96T>A (CD46)
ENST00000480003.5:c.944T>A (CD46) ENSP00000418471.1:p.Val315Asp
ENST00000488596.5:n.365T>A (CD46)
NM_002389.4:c.1031T>A , LRG_155t1:c.1031T>A (CD46) NP_002380.3:p.Val344Asp
NM_153826.3:c.986T>A (CD46) NP_722548.1:p.Val329Asp
NM_172350.2:c.941T>A (CD46) NP_758860.1:p.Val314Asp
NM_172351.2:c.986T>A (CD46) NP_758861.1:p.Val329Asp
NM_172352.2:c.941T>A (CD46) NP_758862.1:p.Val314Asp
NM_172353.2:c.941T>A (CD46) NP_758863.1:p.Val314Asp
NM_172359.2:c.1031T>A (CD46) NP_758869.1:p.Val344Asp
NM_172361.2:c.899T>A (CD46) NP_758871.1:p.Val300Asp
XM_011509563.1:c.989T>A (CD46) XP_011507865.1:p.Val330Asp
XM_011509564.1:c.944T>A (CD46) XP_011507866.1:p.Val315Asp
XR_922496.1:n.7666+20931A>T (MIR29B2CHG)
XR_922497.1:n.6306-22086A>T (MIR29B2CHG)
NM_172355.2:c.944T>A (CD46) NP_758865.1:p.Val315Asp
NM_172356.2:c.944T>A (CD46) NP_758866.1:p.Val315Asp
NM_172357.2:c.899T>A (CD46) NP_758867.1:p.Val300Asp
NM_172358.2:c.986T>A (CD46) NP_758868.1:p.Val329Asp
XM_011509563.2:c.989T>A (CD46) XP_011507865.1:p.Val330Asp
XM_017001308.2:c.989T>A (CD46) XP_016856797.1:p.Val330Asp
XR_001737177.2:n.2137T>A (CD46)
XR_002956621.1:n.2675T>A (CD46)
XR_002956622.1:n.2675T>A (CD46)
NM_153826.4:c.986T>A (CD46) NP_722548.1:p.Val329Asp
NM_172350.3:c.941T>A (CD46) NP_758860.1:p.Val314Asp
NM_172351.3:c.986T>A (CD46) MANE Select NP_758861.1:p.Val329Asp
NM_172352.3:c.941T>A (CD46) NP_758862.1:p.Val314Asp
NM_172353.3:c.941T>A (CD46) NP_758863.1:p.Val314Asp
NM_172355.3:c.944T>A (CD46) NP_758865.1:p.Val315Asp
NM_172356.3:c.944T>A (CD46) NP_758866.1:p.Val315Asp
NM_172357.3:c.899T>A (CD46) NP_758867.1:p.Val300Asp
NM_172358.3:c.986T>A (CD46) NP_758868.1:p.Val329Asp
NM_172359.3:c.1031T>A (CD46) NP_758869.1:p.Val344Asp
NM_172361.3:c.899T>A (CD46) NP_758871.1:p.Val300Asp