Canonical Allele Identifier: CA394300261

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134455G>T (hg19) ; chr16:g.2084454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084454G>T , CM000678.2:g.2084454G>T	GRCh38
NC_000016.9:g.2134455G>T , CM000678.1:g.2134455G>T	GRCh37
NC_000016.8:g.2074456G>T	NCBI36
NG_005895.1:g.40149G>T , LRG_487:g.40149G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2581G>T	ENSP00000455997.2:n.*2581G>T
ENST00000642206.2:c.4079G>T	ENSP00000495146.2:p.Ser1360Ile
ENST00000642365.2:c.4229G>T	ENSP00000495459.2:p.Ser1410Ile
ENST00000644417.2:c.*4612G>T	ENSP00000493912.2:n.*4612G>T
ENST00000646464.2:c.*6981G>T	ENSP00000496610.2:n.*6981G>T
ENST00000219476.9:c.4232G>T MANE Select	ENSP00000219476.3:p.Ser1411Ile
ENST00000350773.9:c.4163G>T	ENSP00000344383.4:p.Ser1388Ile
ENST00000401874.7:c.4031G>T	ENSP00000384468.2:p.Ser1344Ile
ENST00000568454.6:c.4064G>T	ENSP00000454487.1:p.Ser1355Ile
ENST00000569110.2:c.468G>T
ENST00000569930.2:n.2114G>T
ENST00000642365.1:c.2886G>T
ENST00000642561.1:c.4103G>T	ENSP00000495099.1:p.Ser1368Ile
ENST00000642728.1:n.414G>T
ENST00000642797.1:c.4034G>T	ENSP00000493846.1:p.Ser1345Ile
ENST00000642936.1:c.4100G>T	ENSP00000494514.1:p.Ser1367Ile
ENST00000643088.1:c.4031G>T	ENSP00000494747.1:p.Ser1344Ile
ENST00000643177.1:n.246G>T
ENST00000643426.1:n.1880G>T
ENST00000643946.1:c.4163G>T	ENSP00000495927.1:p.Ser1388Ile
ENST00000644043.1:c.4103G>T	ENSP00000496262.1:p.Ser1368Ile
ENST00000644329.1:c.4031G>T	ENSP00000496611.1:p.Ser1344Ile
ENST00000644335.1:c.4034G>T	ENSP00000496317.1:p.Ser1345Ile
ENST00000644399.1:c.4153G>T
ENST00000645024.1:n.2316G>T
ENST00000645186.1:c.475G>T
ENST00000646388.1:c.4232G>T	ENSP00000495921.1:p.Ser1411Ile
ENST00000646634.1:n.3047G>T
ENST00000646674.1:n.1484G>T
ENST00000647042.1:n.1455G>T
ENST00000647180.1:n.1345G>T
ENST00000219476.7:c.4232G>T	ENSP00000219476.3:p.Ser1411Ile
ENST00000350773.8:c.4163G>T	ENSP00000344383.4:p.Ser1388Ile
ENST00000382538.10:c.3887G>T	ENSP00000371978.6:p.Ser1296Ile
ENST00000401874.6:c.4031G>T	ENSP00000384468.2:p.Ser1344Ile
ENST00000439117.6:c.*3399G>T	ENSP00000406980.2:n.*3399G>T
ENST00000439673.6:c.3923G>T	ENSP00000399232.2:p.Ser1308Ile
ENST00000497886.5:n.1990G>T
ENST00000568454.5:c.4064G>T	ENSP00000454487.1:p.Ser1355Ile
ENST00000569110.1:c.414G>T
ENST00000569930.1:n.1347G>T
NM_000548.3:c.4232G>T , LRG_487t1:c.4232G>T	NP_000539.2:p.Ser1411Ile
NM_001077183.1:c.4031G>T	NP_001070651.1:p.Ser1344Ile
NM_001114382.1:c.4163G>T	NP_001107854.1:p.Ser1388Ile
XM_005255529.3:c.4103G>T	XP_005255586.2:p.Ser1368Ile
XM_005255531.3:c.4034G>T	XP_005255588.2:p.Ser1345Ile
XM_011522636.1:c.4286G>T	XP_011520938.1:p.Ser1429Ile
XM_011522637.1:c.4283G>T	XP_011520939.1:p.Ser1428Ile
XM_011522638.1:c.4175G>T	XP_011520940.1:p.Ser1392Ile
XM_011522639.1:c.4157G>T	XP_011520941.1:p.Ser1386Ile
XM_011522640.1:c.4154G>T	XP_011520942.1:p.Ser1385Ile
XM_011522641.1:c.3923G>T	XP_011520943.1:p.Ser1308Ile
NM_000548.4:c.4232G>T	NP_000539.2:p.Ser1411Ile
NM_001077183.2:c.4031G>T	NP_001070651.1:p.Ser1344Ile
NM_001114382.2:c.4163G>T	NP_001107854.1:p.Ser1388Ile
NM_001318827.1:c.3923G>T	NP_001305756.1:p.Ser1308Ile
NM_001318829.1:c.3887G>T	NP_001305758.1:p.Ser1296Ile
NM_001318831.1:c.3500G>T	NP_001305760.1:p.Ser1167Ile
NM_001318832.1:c.4064G>T	NP_001305761.1:p.Ser1355Ile
NM_001363528.1:c.4034G>T	NP_001350457.1:p.Ser1345Ile
NM_021055.2:c.4103G>T	NP_066399.2:p.Ser1368Ile
XM_005255531.4:c.4034G>T	XP_005255588.2:p.Ser1345Ile
XM_011522636.2:c.4286G>T	XP_011520938.1:p.Ser1429Ile
XM_011522637.2:c.4283G>T	XP_011520939.1:p.Ser1428Ile
XM_011522638.2:c.4448G>T	XP_011520940.2:p.Ser1483Ile
XM_011522639.2:c.4157G>T	XP_011520941.1:p.Ser1386Ile
XM_011522640.2:c.4154G>T	XP_011520942.1:p.Ser1385Ile
XM_017023615.1:c.4229G>T	XP_016879104.1:p.Ser1410Ile
XM_017023616.1:c.4100G>T	XP_016879105.1:p.Ser1367Ile
XM_017023617.1:c.4196G>T	XP_016879106.1:p.Ser1399Ile
XM_017023618.1:c.2942G>T	XP_016879107.1:p.Ser981Ile
XM_024450413.1:c.4031G>T	XP_024306181.1:p.Ser1344Ile
NM_000548.5:c.4232G>T MANE Select	NP_000539.2:p.Ser1411Ile
NM_001370404.1:c.4100G>T	NP_001357333.1:p.Ser1367Ile
NM_001370405.1:c.4103G>T	NP_001357334.1:p.Ser1368Ile
NM_001077183.3:c.4031G>T	NP_001070651.1:p.Ser1344Ile
NM_001114382.3:c.4163G>T	NP_001107854.1:p.Ser1388Ile
NM_001318827.2:c.3923G>T	NP_001305756.1:p.Ser1308Ile
NM_001318829.2:c.3887G>T	NP_001305758.1:p.Ser1296Ile
NM_001318831.2:c.3500G>T	NP_001305760.1:p.Ser1167Ile
NM_001318832.2:c.4064G>T	NP_001305761.1:p.Ser1355Ile
NM_001363528.2:c.4034G>T	NP_001350457.1:p.Ser1345Ile
NM_021055.3:c.4103G>T	NP_066399.2:p.Ser1368Ile