Canonical Allele Identifier: CA344552726

Gene: CD46 MIR29B2CHG

Linked Data

• MyVariant Identifiers: chr1:g.207958421T>G (hg19) ; chr1:g.207785076T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207785076T>G , CM000663.2:g.207785076T>G	GRCh38
NC_000001.10:g.207958421T>G , CM000663.1:g.207958421T>G	GRCh37
NC_000001.9:g.206025044T>G	NCBI36
NG_009296.1:g.38020T>G , LRG_155:g.38020T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490278.2:n.2162T>G (CD46)
ENST00000496723.2:n.1739T>G (CD46)
ENST00000636114.2:n.2681T>G (CD46)
ENST00000695777.1:c.988T>G (CD46)	ENSP00000512167.1:p.Trp330Gly
ENST00000695778.1:c.943T>G (CD46)	ENSP00000512168.1:p.Trp315Gly
ENST00000695779.1:n.1705T>G (CD46)
ENST00000695780.1:c.938-580T>G (CD46)	ENSP00000512169.1:n.938-580T>G
ENST00000695781.1:c.*71T>G (CD46)	ENSP00000512170.1:n.*71T>G
ENST00000695782.1:c.943T>G (CD46)	ENSP00000512171.1:p.Trp315Gly
ENST00000695783.1:n.4356T>G (CD46)
ENST00000695784.1:c.*114T>G (CD46)	ENSP00000512172.1:n.*114T>G
ENST00000695786.1:n.910T>G (CD46)
ENST00000695787.1:n.2346T>G (CD46)
ENST00000695788.1:n.567T>G (CD46)
ENST00000695789.1:n.2239T>G (CD46)
ENST00000695790.1:n.2228T>G (CD46)
ENST00000367042.6:c.988T>G (CD46) MANE Select	ENSP00000356009.1:p.Trp330Gly
ENST00000636114.1:n.742T>G (CD46)
ENST00000322875.8:c.1033T>G (CD46)	ENSP00000313875.4:p.Trp345Gly
ENST00000322918.9:c.943T>G (CD46)	ENSP00000314664.5:p.Trp315Gly
ENST00000354848.5:c.988T>G (CD46)	ENSP00000346912.1:p.Trp330Gly
ENST00000357714.5:c.943T>G (CD46)	ENSP00000350346.1:p.Trp315Gly
ENST00000358170.6:c.1033T>G (CD46)	ENSP00000350893.2:p.Trp345Gly
ENST00000360212.6:c.901T>G (CD46)	ENSP00000353342.2:p.Trp301Gly
ENST00000367041.5:c.943T>G (CD46)	ENSP00000356008.1:p.Trp315Gly
ENST00000367042.5:c.988T>G (CD46)	ENSP00000356009.1:p.Trp330Gly
ENST00000367047.5:c.844T>G (CD46)	ENSP00000356014.1:p.Trp282Gly
ENST00000462968.2:c.69T>G (CD46)
ENST00000469535.5:n.5737T>G (CD46)
ENST00000471987.1:n.98T>G (CD46)
ENST00000480003.5:c.946T>G (CD46)	ENSP00000418471.1:p.Trp316Gly
ENST00000488596.5:n.367T>G (CD46)
NM_002389.4:c.1033T>G , LRG_155t1:c.1033T>G (CD46)	NP_002380.3:p.Trp345Gly
NM_153826.3:c.988T>G (CD46)	NP_722548.1:p.Trp330Gly
NM_172350.2:c.943T>G (CD46)	NP_758860.1:p.Trp315Gly
NM_172351.2:c.988T>G (CD46)	NP_758861.1:p.Trp330Gly
NM_172352.2:c.943T>G (CD46)	NP_758862.1:p.Trp315Gly
NM_172353.2:c.943T>G (CD46)	NP_758863.1:p.Trp315Gly
NM_172359.2:c.1033T>G (CD46)	NP_758869.1:p.Trp345Gly
NM_172361.2:c.901T>G (CD46)	NP_758871.1:p.Trp301Gly
XM_011509563.1:c.991T>G (CD46)	XP_011507865.1:p.Trp331Gly
XM_011509564.1:c.946T>G (CD46)	XP_011507866.1:p.Trp316Gly
XR_922496.1:n.7666+20929A>C (MIR29B2CHG)
XR_922497.1:n.6306-22088A>C (MIR29B2CHG)
NM_172355.2:c.946T>G (CD46)	NP_758865.1:p.Trp316Gly
NM_172356.2:c.946T>G (CD46)	NP_758866.1:p.Trp316Gly
NM_172357.2:c.901T>G (CD46)	NP_758867.1:p.Trp301Gly
NM_172358.2:c.988T>G (CD46)	NP_758868.1:p.Trp330Gly
XM_011509563.2:c.991T>G (CD46)	XP_011507865.1:p.Trp331Gly
XM_017001308.2:c.991T>G (CD46)	XP_016856797.1:p.Trp331Gly
XR_001737177.2:n.2139T>G (CD46)
XR_002956621.1:n.2677T>G (CD46)
XR_002956622.1:n.2677T>G (CD46)
NM_153826.4:c.988T>G (CD46)	NP_722548.1:p.Trp330Gly
NM_172350.3:c.943T>G (CD46)	NP_758860.1:p.Trp315Gly
NM_172351.3:c.988T>G (CD46) MANE Select	NP_758861.1:p.Trp330Gly
NM_172352.3:c.943T>G (CD46)	NP_758862.1:p.Trp315Gly
NM_172353.3:c.943T>G (CD46)	NP_758863.1:p.Trp315Gly
NM_172355.3:c.946T>G (CD46)	NP_758865.1:p.Trp316Gly
NM_172356.3:c.946T>G (CD46)	NP_758866.1:p.Trp316Gly
NM_172357.3:c.901T>G (CD46)	NP_758867.1:p.Trp301Gly
NM_172358.3:c.988T>G (CD46)	NP_758868.1:p.Trp330Gly
NM_172359.3:c.1033T>G (CD46)	NP_758869.1:p.Trp345Gly
NM_172361.3:c.901T>G (CD46)	NP_758871.1:p.Trp301Gly