Canonical Allele Identifier: CA344552789
Gene: CD46 HGNC NCBI
MIR29B2CHG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207785106G>C , CM000663.2:g.207785106G>C GRCh38
NC_000001.10:g.207958451G>C , CM000663.1:g.207958451G>C GRCh37
NC_000001.9:g.206025074G>C NCBI36
NG_009296.1:g.38050G>C , LRG_155:g.38050G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490278.2:n.2192G>C (CD46)
ENST00000496723.2:n.1769G>C (CD46)
ENST00000636114.2:n.2711G>C (CD46)
ENST00000695777.1:c.1018G>C (CD46) ENSP00000512167.1:p.Asp340His
ENST00000695778.1:c.973G>C (CD46) ENSP00000512168.1:p.Asp325His
ENST00000695779.1:n.1735G>C (CD46)
ENST00000695780.1:c.938-550G>C (CD46) ENSP00000512169.1:n.938-550G>C
ENST00000695781.1:c.*101G>C (CD46) ENSP00000512170.1:n.*101G>C
ENST00000695782.1:c.973G>C (CD46) ENSP00000512171.1:p.Asp325His
ENST00000695783.1:n.4386G>C (CD46)
ENST00000695784.1:c.*144G>C (CD46) ENSP00000512172.1:n.*144G>C
ENST00000695786.1:n.940G>C (CD46)
ENST00000695787.1:n.2376G>C (CD46)
ENST00000695788.1:n.597G>C (CD46)
ENST00000695789.1:n.2269G>C (CD46)
ENST00000695790.1:n.2258G>C (CD46)
ENST00000367042.6:c.1018G>C (CD46) MANE Select ENSP00000356009.1:p.Val340Leu
ENST00000636114.1:n.772G>C (CD46)
ENST00000322875.8:c.1063G>C (CD46) ENSP00000313875.4:p.Val355Leu
ENST00000322918.9:c.973G>C (CD46) ENSP00000314664.5:p.Gly325Arg
ENST00000354848.5:c.1018G>C (CD46) ENSP00000346912.1:p.Val340Leu
ENST00000357714.5:c.973G>C (CD46) ENSP00000350346.1:p.Val325Leu
ENST00000358170.6:c.1063G>C (CD46) ENSP00000350893.2:p.Val355Leu
ENST00000360212.6:c.931G>C (CD46) ENSP00000353342.2:p.Val311Leu
ENST00000367041.5:c.973G>C (CD46) ENSP00000356008.1:p.Val325Leu
ENST00000367042.5:c.1018G>C (CD46) ENSP00000356009.1:p.Val340Leu
ENST00000367047.5:c.874G>C (CD46) ENSP00000356014.1:p.Val292Leu
ENST00000462968.2:c.99G>C (CD46)
ENST00000469535.5:n.5767G>C (CD46)
ENST00000471987.1:n.128G>C (CD46)
ENST00000480003.5:c.976G>C (CD46) ENSP00000418471.1:p.Val326Leu
ENST00000488596.5:n.397G>C (CD46)
NM_002389.4:c.1063G>C , LRG_155t1:c.1063G>C (CD46) NP_002380.3:p.Val355Leu
NM_153826.3:c.1018G>C (CD46) NP_722548.1:p.Val340Leu
NM_172350.2:c.973G>C (CD46) NP_758860.1:p.Gly325Arg
NM_172351.2:c.1018G>C (CD46) NP_758861.1:p.Val340Leu
NM_172352.2:c.973G>C (CD46) NP_758862.1:p.Val325Leu
NM_172353.2:c.973G>C (CD46) NP_758863.1:p.Val325Leu
NM_172359.2:c.1063G>C (CD46) NP_758869.1:p.Val355Leu
NM_172361.2:c.931G>C (CD46) NP_758871.1:p.Val311Leu
XM_011509563.1:c.1021G>C (CD46) XP_011507865.1:p.Val341Leu
XM_011509564.1:c.976G>C (CD46) XP_011507866.1:p.Val326Leu
XR_922496.1:n.7666+20899C>G (MIR29B2CHG)
XR_922497.1:n.6306-22118C>G (MIR29B2CHG)
NM_172355.2:c.976G>C (CD46) NP_758865.1:p.Val326Leu
NM_172356.2:c.976G>C (CD46) NP_758866.1:p.Val326Leu
NM_172357.2:c.931G>C (CD46) NP_758867.1:p.Val311Leu
NM_172358.2:c.1018G>C (CD46) NP_758868.1:p.Asp340His
XM_011509563.2:c.1021G>C (CD46) XP_011507865.1:p.Val341Leu
XM_017001308.2:c.1021G>C (CD46) XP_016856797.1:p.Val341Leu
XR_001737177.2:n.2169G>C (CD46)
XR_002956621.1:n.2707G>C (CD46)
XR_002956622.1:n.2707G>C (CD46)
NM_153826.4:c.1018G>C (CD46) NP_722548.1:p.Val340Leu
NM_172350.3:c.973G>C (CD46) NP_758860.1:p.Gly325Arg
NM_172351.3:c.1018G>C (CD46) MANE Select NP_758861.1:p.Val340Leu
NM_172352.3:c.973G>C (CD46) NP_758862.1:p.Val325Leu
NM_172353.3:c.973G>C (CD46) NP_758863.1:p.Val325Leu
NM_172355.3:c.976G>C (CD46) NP_758865.1:p.Val326Leu
NM_172356.3:c.976G>C (CD46) NP_758866.1:p.Val326Leu
NM_172357.3:c.931G>C (CD46) NP_758867.1:p.Val311Leu
NM_172358.3:c.1018G>C (CD46) NP_758868.1:p.Asp340His
NM_172359.3:c.1063G>C (CD46) NP_758869.1:p.Val355Leu
NM_172361.3:c.931G>C (CD46) NP_758871.1:p.Val311Leu