Canonical Allele Identifier: CA528618602

Gene: CD46 MIR29B2CHG

Linked Data

• dbSNP Id: rs1191135832
• gnomAD v2: 1-207958342-T-C
• gnomAD v3: 1-207784997-T-C
• gnomAD v4: 1-207784997-T-C
• MyVariant Identifiers: chr1:g.207958342T>C (hg19) ; chr1:g.207784997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207784997T>C , CM000663.2:g.207784997T>C	GRCh38
NC_000001.10:g.207958342T>C , CM000663.1:g.207958342T>C	GRCh37
NC_000001.9:g.206024965T>C	NCBI36
NG_009296.1:g.37941T>C , LRG_155:g.37941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490278.2:n.2083T>C (CD46)
ENST00000496723.2:n.1734-74T>C (CD46)
ENST00000636114.2:n.2676-74T>C (CD46)
ENST00000695777.1:c.983-74T>C (CD46)	ENSP00000512167.1:n.983-74T>C
ENST00000695778.1:c.938-74T>C (CD46)	ENSP00000512168.1:n.938-74T>C
ENST00000695779.1:n.1700-74T>C (CD46)
ENST00000695780.1:c.938-659T>C (CD46)	ENSP00000512169.1:n.938-659T>C
ENST00000695781.1:c.*66-74T>C (CD46)	ENSP00000512170.1:n.*66-74T>C
ENST00000695782.1:c.938-74T>C (CD46)	ENSP00000512171.1:n.938-74T>C
ENST00000695783.1:n.4351-74T>C (CD46)
ENST00000695784.1:c.*109-74T>C (CD46)	ENSP00000512172.1:n.*109-74T>C
ENST00000695786.1:n.905-74T>C (CD46)
ENST00000695787.1:n.2267T>C (CD46)
ENST00000695788.1:n.562-74T>C (CD46)
ENST00000695789.1:n.2160T>C (CD46)
ENST00000695790.1:n.2149T>C (CD46)
ENST00000367042.6:c.983-74T>C (CD46) MANE Select	ENSP00000356009.1:n.983-74T>C
ENST00000636114.1:n.737-74T>C (CD46)
ENST00000322875.8:c.1028-74T>C (CD46)	ENSP00000313875.4:n.1028-74T>C
ENST00000322918.9:c.938-74T>C (CD46)	ENSP00000314664.5:n.938-74T>C
ENST00000354848.5:c.983-74T>C (CD46)	ENSP00000346912.1:n.983-74T>C
ENST00000357714.5:c.938-74T>C (CD46)	ENSP00000350346.1:n.938-74T>C
ENST00000358170.6:c.1028-74T>C (CD46)	ENSP00000350893.2:n.1028-74T>C
ENST00000360212.6:c.896-74T>C (CD46)	ENSP00000353342.2:n.896-74T>C
ENST00000367041.5:c.938-74T>C (CD46)	ENSP00000356008.1:n.938-74T>C
ENST00000367042.5:c.983-74T>C (CD46)	ENSP00000356009.1:n.983-74T>C
ENST00000367047.5:c.839-74T>C (CD46)	ENSP00000356014.1:n.839-74T>C
ENST00000462968.2:c.64-74T>C (CD46)
ENST00000469535.5:n.5732-74T>C (CD46)
ENST00000471987.1:n.93-74T>C (CD46)
ENST00000480003.5:c.941-74T>C (CD46)	ENSP00000418471.1:n.941-74T>C
ENST00000488596.5:n.362-74T>C (CD46)
NM_002389.4:c.1028-74T>C , LRG_155t1:c.1028-74T>C (CD46)	NP_002380.3:n.1028-74T>C
NM_153826.3:c.983-74T>C (CD46)	NP_722548.1:n.983-74T>C
NM_172350.2:c.938-74T>C (CD46)	NP_758860.1:n.938-74T>C
NM_172351.2:c.983-74T>C (CD46)	NP_758861.1:n.983-74T>C
NM_172352.2:c.938-74T>C (CD46)	NP_758862.1:n.938-74T>C
NM_172353.2:c.938-74T>C (CD46)	NP_758863.1:n.938-74T>C
NM_172359.2:c.1028-74T>C (CD46)	NP_758869.1:n.1028-74T>C
NM_172361.2:c.896-74T>C (CD46)	NP_758871.1:n.896-74T>C
XM_011509563.1:c.986-74T>C (CD46)	XP_011507865.1:n.986-74T>C
XM_011509564.1:c.941-74T>C (CD46)	XP_011507866.1:n.941-74T>C
XR_922496.1:n.7666+21008A>G (MIR29B2CHG)
XR_922497.1:n.6306-22009A>G (MIR29B2CHG)
NM_172355.2:c.941-74T>C (CD46)	NP_758865.1:n.941-74T>C
NM_172356.2:c.941-74T>C (CD46)	NP_758866.1:n.941-74T>C
NM_172357.2:c.896-74T>C (CD46)	NP_758867.1:n.896-74T>C
NM_172358.2:c.983-74T>C (CD46)	NP_758868.1:n.983-74T>C
XM_011509563.2:c.986-74T>C (CD46)	XP_011507865.1:n.986-74T>C
XM_017001308.2:c.986-74T>C (CD46)	XP_016856797.1:n.986-74T>C
XR_001737177.2:n.2134-74T>C (CD46)
XR_002956621.1:n.2672-74T>C (CD46)
XR_002956622.1:n.2672-74T>C (CD46)
NM_153826.4:c.983-74T>C (CD46)	NP_722548.1:n.983-74T>C
NM_172350.3:c.938-74T>C (CD46)	NP_758860.1:n.938-74T>C
NM_172351.3:c.983-74T>C (CD46) MANE Select	NP_758861.1:n.983-74T>C
NM_172352.3:c.938-74T>C (CD46)	NP_758862.1:n.938-74T>C
NM_172353.3:c.938-74T>C (CD46)	NP_758863.1:n.938-74T>C
NM_172355.3:c.941-74T>C (CD46)	NP_758865.1:n.941-74T>C
NM_172356.3:c.941-74T>C (CD46)	NP_758866.1:n.941-74T>C
NM_172357.3:c.896-74T>C (CD46)	NP_758867.1:n.896-74T>C
NM_172358.3:c.983-74T>C (CD46)	NP_758868.1:n.983-74T>C
NM_172359.3:c.1028-74T>C (CD46)	NP_758869.1:n.1028-74T>C
NM_172361.3:c.896-74T>C (CD46)	NP_758871.1:n.896-74T>C