Canonical Allele Identifier: CA422977065

Gene: CD46 MIR29B2CHG

Linked Data

• gnomAD v4: 1-207785090-G-C
• MyVariant Identifiers: chr1:g.207958435G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207785090G>C , CM000663.2:g.207785090G>C	GRCh38
NC_000001.10:g.207958435G>C , CM000663.1:g.207958435G>C	GRCh37
NC_000001.9:g.206025058G>C	NCBI36
NG_009296.1:g.38034G>C , LRG_155:g.38034G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000490278.2:n.2176G>C (CD46)
ENST00000496723.2:n.1753G>C (CD46)
ENST00000636114.2:n.2695G>C (CD46)
ENST00000695777.1:c.1002G>C (CD46)	ENSP00000512167.1:p.Val334=
ENST00000695778.1:c.957G>C (CD46)	ENSP00000512168.1:p.Val319=
ENST00000695779.1:n.1719G>C (CD46)
ENST00000695780.1:c.938-566G>C (CD46)	ENSP00000512169.1:n.938-566G>C
ENST00000695781.1:c.*85G>C (CD46)	ENSP00000512170.1:n.*85G>C
ENST00000695782.1:c.957G>C (CD46)	ENSP00000512171.1:p.Val319=
ENST00000695783.1:n.4370G>C (CD46)
ENST00000695784.1:c.*128G>C (CD46)	ENSP00000512172.1:n.*128G>C
ENST00000695786.1:n.924G>C (CD46)
ENST00000695787.1:n.2360G>C (CD46)
ENST00000695788.1:n.581G>C (CD46)
ENST00000695789.1:n.2253G>C (CD46)
ENST00000695790.1:n.2242G>C (CD46)
ENST00000367042.6:c.1002G>C (CD46) MANE Select	ENSP00000356009.1:p.Val334=
ENST00000636114.1:n.756G>C (CD46)
ENST00000322875.8:c.1047G>C (CD46)	ENSP00000313875.4:p.Val349=
ENST00000322918.9:c.957G>C (CD46)	ENSP00000314664.5:p.Val319=
ENST00000354848.5:c.1002G>C (CD46)	ENSP00000346912.1:p.Val334=
ENST00000357714.5:c.957G>C (CD46)	ENSP00000350346.1:p.Val319=
ENST00000358170.6:c.1047G>C (CD46)	ENSP00000350893.2:p.Val349=
ENST00000360212.6:c.915G>C (CD46)	ENSP00000353342.2:p.Val305=
ENST00000367041.5:c.957G>C (CD46)	ENSP00000356008.1:p.Val319=
ENST00000367042.5:c.1002G>C (CD46)	ENSP00000356009.1:p.Val334=
ENST00000367047.5:c.858G>C (CD46)	ENSP00000356014.1:p.Val286=
ENST00000462968.2:c.83G>C (CD46)
ENST00000469535.5:n.5751G>C (CD46)
ENST00000471987.1:n.112G>C (CD46)
ENST00000480003.5:c.960G>C (CD46)	ENSP00000418471.1:p.Val320=
ENST00000488596.5:n.381G>C (CD46)
NM_002389.4:c.1047G>C , LRG_155t1:c.1047G>C (CD46)	NP_002380.3:p.Val349=
NM_153826.3:c.1002G>C (CD46)	NP_722548.1:p.Val334=
NM_172350.2:c.957G>C (CD46)	NP_758860.1:p.Val319=
NM_172351.2:c.1002G>C (CD46)	NP_758861.1:p.Val334=
NM_172352.2:c.957G>C (CD46)	NP_758862.1:p.Val319=
NM_172353.2:c.957G>C (CD46)	NP_758863.1:p.Val319=
NM_172359.2:c.1047G>C (CD46)	NP_758869.1:p.Val349=
NM_172361.2:c.915G>C (CD46)	NP_758871.1:p.Val305=
XM_011509563.1:c.1005G>C (CD46)	XP_011507865.1:p.Val335=
XM_011509564.1:c.960G>C (CD46)	XP_011507866.1:p.Val320=
XR_922496.1:n.7666+20915C>G (MIR29B2CHG)
XR_922497.1:n.6306-22102C>G (MIR29B2CHG)
NM_172355.2:c.960G>C (CD46)	NP_758865.1:p.Val320=
NM_172356.2:c.960G>C (CD46)	NP_758866.1:p.Val320=
NM_172357.2:c.915G>C (CD46)	NP_758867.1:p.Val305=
NM_172358.2:c.1002G>C (CD46)	NP_758868.1:p.Val334=
XM_011509563.2:c.1005G>C (CD46)	XP_011507865.1:p.Val335=
XM_017001308.2:c.1005G>C (CD46)	XP_016856797.1:p.Val335=
XR_001737177.2:n.2153G>C (CD46)
XR_002956621.1:n.2691G>C (CD46)
XR_002956622.1:n.2691G>C (CD46)
NM_153826.4:c.1002G>C (CD46)	NP_722548.1:p.Val334=
NM_172350.3:c.957G>C (CD46)	NP_758860.1:p.Val319=
NM_172351.3:c.1002G>C (CD46) MANE Select	NP_758861.1:p.Val334=
NM_172352.3:c.957G>C (CD46)	NP_758862.1:p.Val319=
NM_172353.3:c.957G>C (CD46)	NP_758863.1:p.Val319=
NM_172355.3:c.960G>C (CD46)	NP_758865.1:p.Val320=
NM_172356.3:c.960G>C (CD46)	NP_758866.1:p.Val320=
NM_172357.3:c.915G>C (CD46)	NP_758867.1:p.Val305=
NM_172358.3:c.1002G>C (CD46)	NP_758868.1:p.Val334=
NM_172359.3:c.1047G>C (CD46)	NP_758869.1:p.Val349=
NM_172361.3:c.915G>C (CD46)	NP_758871.1:p.Val305=