Canonical Allele Identifier: CA394300231

Gene: TSC2

Linked Data

• dbSNP Id: rs2151528522
• MyVariant Identifiers: chr16:g.2134452T>G (hg19) ; chr16:g.2084451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084451T>G , CM000678.2:g.2084451T>G	GRCh38
NC_000016.9:g.2134452T>G , CM000678.1:g.2134452T>G	GRCh37
NC_000016.8:g.2074453T>G	NCBI36
NG_005895.1:g.40146T>G , LRG_487:g.40146T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2578T>G	ENSP00000455997.2:n.*2578T>G
ENST00000642206.2:c.4076T>G	ENSP00000495146.2:p.Leu1359Arg
ENST00000642365.2:c.4226T>G	ENSP00000495459.2:p.Leu1409Arg
ENST00000644417.2:c.*4609T>G	ENSP00000493912.2:n.*4609T>G
ENST00000646464.2:c.*6978T>G	ENSP00000496610.2:n.*6978T>G
ENST00000219476.9:c.4229T>G MANE Select	ENSP00000219476.3:p.Leu1410Arg
ENST00000350773.9:c.4160T>G	ENSP00000344383.4:p.Leu1387Arg
ENST00000401874.7:c.4028T>G	ENSP00000384468.2:p.Leu1343Arg
ENST00000568454.6:c.4061T>G	ENSP00000454487.1:p.Leu1354Arg
ENST00000569110.2:c.465T>G
ENST00000569930.2:n.2111T>G
ENST00000642365.1:c.2883T>G
ENST00000642561.1:c.4100T>G	ENSP00000495099.1:p.Leu1367Arg
ENST00000642728.1:n.411T>G
ENST00000642797.1:c.4031T>G	ENSP00000493846.1:p.Leu1344Arg
ENST00000642936.1:c.4097T>G	ENSP00000494514.1:p.Leu1366Arg
ENST00000643088.1:c.4028T>G	ENSP00000494747.1:p.Leu1343Arg
ENST00000643177.1:n.243T>G
ENST00000643426.1:n.1877T>G
ENST00000643946.1:c.4160T>G	ENSP00000495927.1:p.Leu1387Arg
ENST00000644043.1:c.4100T>G	ENSP00000496262.1:p.Leu1367Arg
ENST00000644329.1:c.4028T>G	ENSP00000496611.1:p.Leu1343Arg
ENST00000644335.1:c.4031T>G	ENSP00000496317.1:p.Leu1344Arg
ENST00000644399.1:c.4150T>G
ENST00000645024.1:n.2313T>G
ENST00000645186.1:c.472T>G
ENST00000646388.1:c.4229T>G	ENSP00000495921.1:p.Leu1410Arg
ENST00000646634.1:n.3044T>G
ENST00000646674.1:n.1481T>G
ENST00000647042.1:n.1452T>G
ENST00000647180.1:n.1342T>G
ENST00000219476.7:c.4229T>G	ENSP00000219476.3:p.Leu1410Arg
ENST00000350773.8:c.4160T>G	ENSP00000344383.4:p.Leu1387Arg
ENST00000382538.10:c.3884T>G	ENSP00000371978.6:p.Leu1295Arg
ENST00000401874.6:c.4028T>G	ENSP00000384468.2:p.Leu1343Arg
ENST00000439117.6:c.*3396T>G	ENSP00000406980.2:n.*3396T>G
ENST00000439673.6:c.3920T>G	ENSP00000399232.2:p.Leu1307Arg
ENST00000497886.5:n.1987T>G
ENST00000568454.5:c.4061T>G	ENSP00000454487.1:p.Leu1354Arg
ENST00000569110.1:c.411T>G
ENST00000569930.1:n.1344T>G
NM_000548.3:c.4229T>G , LRG_487t1:c.4229T>G	NP_000539.2:p.Leu1410Arg
NM_001077183.1:c.4028T>G	NP_001070651.1:p.Leu1343Arg
NM_001114382.1:c.4160T>G	NP_001107854.1:p.Leu1387Arg
XM_005255529.3:c.4100T>G	XP_005255586.2:p.Leu1367Arg
XM_005255531.3:c.4031T>G	XP_005255588.2:p.Leu1344Arg
XM_011522636.1:c.4283T>G	XP_011520938.1:p.Leu1428Arg
XM_011522637.1:c.4280T>G	XP_011520939.1:p.Leu1427Arg
XM_011522638.1:c.4172T>G	XP_011520940.1:p.Leu1391Arg
XM_011522639.1:c.4154T>G	XP_011520941.1:p.Leu1385Arg
XM_011522640.1:c.4151T>G	XP_011520942.1:p.Leu1384Arg
XM_011522641.1:c.3920T>G	XP_011520943.1:p.Leu1307Arg
NM_000548.4:c.4229T>G	NP_000539.2:p.Leu1410Arg
NM_001077183.2:c.4028T>G	NP_001070651.1:p.Leu1343Arg
NM_001114382.2:c.4160T>G	NP_001107854.1:p.Leu1387Arg
NM_001318827.1:c.3920T>G	NP_001305756.1:p.Leu1307Arg
NM_001318829.1:c.3884T>G	NP_001305758.1:p.Leu1295Arg
NM_001318831.1:c.3497T>G	NP_001305760.1:p.Leu1166Arg
NM_001318832.1:c.4061T>G	NP_001305761.1:p.Leu1354Arg
NM_001363528.1:c.4031T>G	NP_001350457.1:p.Leu1344Arg
NM_021055.2:c.4100T>G	NP_066399.2:p.Leu1367Arg
XM_005255531.4:c.4031T>G	XP_005255588.2:p.Leu1344Arg
XM_011522636.2:c.4283T>G	XP_011520938.1:p.Leu1428Arg
XM_011522637.2:c.4280T>G	XP_011520939.1:p.Leu1427Arg
XM_011522638.2:c.4445T>G	XP_011520940.2:p.Leu1482Arg
XM_011522639.2:c.4154T>G	XP_011520941.1:p.Leu1385Arg
XM_011522640.2:c.4151T>G	XP_011520942.1:p.Leu1384Arg
XM_017023615.1:c.4226T>G	XP_016879104.1:p.Leu1409Arg
XM_017023616.1:c.4097T>G	XP_016879105.1:p.Leu1366Arg
XM_017023617.1:c.4193T>G	XP_016879106.1:p.Leu1398Arg
XM_017023618.1:c.2939T>G	XP_016879107.1:p.Leu980Arg
XM_024450413.1:c.4028T>G	XP_024306181.1:p.Leu1343Arg
NM_000548.5:c.4229T>G MANE Select	NP_000539.2:p.Leu1410Arg
NM_001370404.1:c.4097T>G	NP_001357333.1:p.Leu1366Arg
NM_001370405.1:c.4100T>G	NP_001357334.1:p.Leu1367Arg
NM_001077183.3:c.4028T>G	NP_001070651.1:p.Leu1343Arg
NM_001114382.3:c.4160T>G	NP_001107854.1:p.Leu1387Arg
NM_001318827.2:c.3920T>G	NP_001305756.1:p.Leu1307Arg
NM_001318829.2:c.3884T>G	NP_001305758.1:p.Leu1295Arg
NM_001318831.2:c.3497T>G	NP_001305760.1:p.Leu1166Arg
NM_001318832.2:c.4061T>G	NP_001305761.1:p.Leu1354Arg
NM_001363528.2:c.4031T>G	NP_001350457.1:p.Leu1344Arg
NM_021055.3:c.4100T>G	NP_066399.2:p.Leu1367Arg