Canonical Allele Identifier: CA344552735

Gene: CD46 MIR29B2CHG

Linked Data

• MyVariant Identifiers: chr1:g.207958424G>C (hg19) ; chr1:g.207785079G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207785079G>C , CM000663.2:g.207785079G>C	GRCh38
NC_000001.10:g.207958424G>C , CM000663.1:g.207958424G>C	GRCh37
NC_000001.9:g.206025047G>C	NCBI36
NG_009296.1:g.38023G>C , LRG_155:g.38023G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490278.2:n.2165G>C (CD46)
ENST00000496723.2:n.1742G>C (CD46)
ENST00000636114.2:n.2684G>C (CD46)
ENST00000695777.1:c.991G>C (CD46)	ENSP00000512167.1:p.Val331Leu
ENST00000695778.1:c.946G>C (CD46)	ENSP00000512168.1:p.Val316Leu
ENST00000695779.1:n.1708G>C (CD46)
ENST00000695780.1:c.938-577G>C (CD46)	ENSP00000512169.1:n.938-577G>C
ENST00000695781.1:c.*74G>C (CD46)	ENSP00000512170.1:n.*74G>C
ENST00000695782.1:c.946G>C (CD46)	ENSP00000512171.1:p.Val316Leu
ENST00000695783.1:n.4359G>C (CD46)
ENST00000695784.1:c.*117G>C (CD46)	ENSP00000512172.1:n.*117G>C
ENST00000695786.1:n.913G>C (CD46)
ENST00000695787.1:n.2349G>C (CD46)
ENST00000695788.1:n.570G>C (CD46)
ENST00000695789.1:n.2242G>C (CD46)
ENST00000695790.1:n.2231G>C (CD46)
ENST00000367042.6:c.991G>C (CD46) MANE Select	ENSP00000356009.1:p.Val331Leu
ENST00000636114.1:n.745G>C (CD46)
ENST00000322875.8:c.1036G>C (CD46)	ENSP00000313875.4:p.Val346Leu
ENST00000322918.9:c.946G>C (CD46)	ENSP00000314664.5:p.Val316Leu
ENST00000354848.5:c.991G>C (CD46)	ENSP00000346912.1:p.Val331Leu
ENST00000357714.5:c.946G>C (CD46)	ENSP00000350346.1:p.Val316Leu
ENST00000358170.6:c.1036G>C (CD46)	ENSP00000350893.2:p.Val346Leu
ENST00000360212.6:c.904G>C (CD46)	ENSP00000353342.2:p.Val302Leu
ENST00000367041.5:c.946G>C (CD46)	ENSP00000356008.1:p.Val316Leu
ENST00000367042.5:c.991G>C (CD46)	ENSP00000356009.1:p.Val331Leu
ENST00000367047.5:c.847G>C (CD46)	ENSP00000356014.1:p.Val283Leu
ENST00000462968.2:c.72G>C (CD46)
ENST00000469535.5:n.5740G>C (CD46)
ENST00000471987.1:n.101G>C (CD46)
ENST00000480003.5:c.949G>C (CD46)	ENSP00000418471.1:p.Val317Leu
ENST00000488596.5:n.370G>C (CD46)
NM_002389.4:c.1036G>C , LRG_155t1:c.1036G>C (CD46)	NP_002380.3:p.Val346Leu
NM_153826.3:c.991G>C (CD46)	NP_722548.1:p.Val331Leu
NM_172350.2:c.946G>C (CD46)	NP_758860.1:p.Val316Leu
NM_172351.2:c.991G>C (CD46)	NP_758861.1:p.Val331Leu
NM_172352.2:c.946G>C (CD46)	NP_758862.1:p.Val316Leu
NM_172353.2:c.946G>C (CD46)	NP_758863.1:p.Val316Leu
NM_172359.2:c.1036G>C (CD46)	NP_758869.1:p.Val346Leu
NM_172361.2:c.904G>C (CD46)	NP_758871.1:p.Val302Leu
XM_011509563.1:c.994G>C (CD46)	XP_011507865.1:p.Val332Leu
XM_011509564.1:c.949G>C (CD46)	XP_011507866.1:p.Val317Leu
XR_922496.1:n.7666+20926C>G (MIR29B2CHG)
XR_922497.1:n.6306-22091C>G (MIR29B2CHG)
NM_172355.2:c.949G>C (CD46)	NP_758865.1:p.Val317Leu
NM_172356.2:c.949G>C (CD46)	NP_758866.1:p.Val317Leu
NM_172357.2:c.904G>C (CD46)	NP_758867.1:p.Val302Leu
NM_172358.2:c.991G>C (CD46)	NP_758868.1:p.Val331Leu
XM_011509563.2:c.994G>C (CD46)	XP_011507865.1:p.Val332Leu
XM_017001308.2:c.994G>C (CD46)	XP_016856797.1:p.Val332Leu
XR_001737177.2:n.2142G>C (CD46)
XR_002956621.1:n.2680G>C (CD46)
XR_002956622.1:n.2680G>C (CD46)
NM_153826.4:c.991G>C (CD46)	NP_722548.1:p.Val331Leu
NM_172350.3:c.946G>C (CD46)	NP_758860.1:p.Val316Leu
NM_172351.3:c.991G>C (CD46) MANE Select	NP_758861.1:p.Val331Leu
NM_172352.3:c.946G>C (CD46)	NP_758862.1:p.Val316Leu
NM_172353.3:c.946G>C (CD46)	NP_758863.1:p.Val316Leu
NM_172355.3:c.949G>C (CD46)	NP_758865.1:p.Val317Leu
NM_172356.3:c.949G>C (CD46)	NP_758866.1:p.Val317Leu
NM_172357.3:c.904G>C (CD46)	NP_758867.1:p.Val302Leu
NM_172358.3:c.991G>C (CD46)	NP_758868.1:p.Val331Leu
NM_172359.3:c.1036G>C (CD46)	NP_758869.1:p.Val346Leu
NM_172361.3:c.904G>C (CD46)	NP_758871.1:p.Val302Leu