Canonical Allele Identifier: CA493043281

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134348C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084347C>T , CM000678.2:g.2084347C>T	GRCh38
NC_000016.9:g.2134348C>T , CM000678.1:g.2134348C>T	GRCh37
NC_000016.8:g.2074349C>T	NCBI36
NG_005895.1:g.40042C>T , LRG_487:g.40042C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2474C>T	ENSP00000455997.2:n.*2474C>T
ENST00000642206.2:c.3972C>T	ENSP00000495146.2:p.Ser1324=
ENST00000642365.2:c.4122C>T	ENSP00000495459.2:p.Ser1374=
ENST00000644417.2:c.*4505C>T	ENSP00000493912.2:n.*4505C>T
ENST00000646464.2:c.*6874C>T	ENSP00000496610.2:n.*6874C>T
ENST00000219476.9:c.4125C>T MANE Select	ENSP00000219476.3:p.Ser1375=
ENST00000350773.9:c.4056C>T	ENSP00000344383.4:p.Ser1352=
ENST00000401874.7:c.3924C>T	ENSP00000384468.2:p.Ser1308=
ENST00000568454.6:c.3957C>T	ENSP00000454487.1:p.Ser1319=
ENST00000569110.2:c.361C>T
ENST00000569930.2:n.2007C>T
ENST00000642365.1:c.2779C>T
ENST00000642561.1:c.3996C>T	ENSP00000495099.1:p.Ser1332=
ENST00000642728.1:n.307C>T
ENST00000642797.1:c.3927C>T	ENSP00000493846.1:p.Ser1309=
ENST00000642936.1:c.3993C>T	ENSP00000494514.1:p.Ser1331=
ENST00000643088.1:c.3924C>T	ENSP00000494747.1:p.Ser1308=
ENST00000643177.1:n.139C>T
ENST00000643426.1:n.1773C>T
ENST00000643946.1:c.4056C>T	ENSP00000495927.1:p.Ser1352=
ENST00000644043.1:c.3996C>T	ENSP00000496262.1:p.Ser1332=
ENST00000644329.1:c.3924C>T	ENSP00000496611.1:p.Ser1308=
ENST00000644335.1:c.3927C>T	ENSP00000496317.1:p.Ser1309=
ENST00000644399.1:c.4046C>T
ENST00000645024.1:n.2209C>T
ENST00000645186.1:c.368C>T
ENST00000646388.1:c.4125C>T	ENSP00000495921.1:p.Ser1375=
ENST00000646634.1:n.2940C>T
ENST00000646674.1:n.1377C>T
ENST00000647042.1:n.1348C>T
ENST00000647180.1:n.1238C>T
ENST00000219476.7:c.4125C>T	ENSP00000219476.3:p.Ser1375=
ENST00000350773.8:c.4056C>T	ENSP00000344383.4:p.Ser1352=
ENST00000382538.10:c.3780C>T	ENSP00000371978.6:p.Ser1260=
ENST00000401874.6:c.3924C>T	ENSP00000384468.2:p.Ser1308=
ENST00000439117.6:c.*3292C>T	ENSP00000406980.2:n.*3292C>T
ENST00000439673.6:c.3816C>T	ENSP00000399232.2:p.Ser1272=
ENST00000497886.5:n.1883C>T
ENST00000568454.5:c.3957C>T	ENSP00000454487.1:p.Ser1319=
ENST00000569110.1:c.307C>T
ENST00000569930.1:n.1240C>T
NM_000548.3:c.4125C>T , LRG_487t1:c.4125C>T	NP_000539.2:p.Ser1375=
NM_001077183.1:c.3924C>T	NP_001070651.1:p.Ser1308=
NM_001114382.1:c.4056C>T	NP_001107854.1:p.Ser1352=
XM_005255529.3:c.3996C>T	XP_005255586.2:p.Ser1332=
XM_005255531.3:c.3927C>T	XP_005255588.2:p.Ser1309=
XM_011522636.1:c.4179C>T	XP_011520938.1:p.Ser1393=
XM_011522637.1:c.4176C>T	XP_011520939.1:p.Ser1392=
XM_011522638.1:c.4068C>T	XP_011520940.1:p.Ser1356=
XM_011522639.1:c.4050C>T	XP_011520941.1:p.Ser1350=
XM_011522640.1:c.4047C>T	XP_011520942.1:p.Ser1349=
XM_011522641.1:c.3816C>T	XP_011520943.1:p.Ser1272=
NM_000548.4:c.4125C>T	NP_000539.2:p.Ser1375=
NM_001077183.2:c.3924C>T	NP_001070651.1:p.Ser1308=
NM_001114382.2:c.4056C>T	NP_001107854.1:p.Ser1352=
NM_001318827.1:c.3816C>T	NP_001305756.1:p.Ser1272=
NM_001318829.1:c.3780C>T	NP_001305758.1:p.Ser1260=
NM_001318831.1:c.3393C>T	NP_001305760.1:p.Ser1131=
NM_001318832.1:c.3957C>T	NP_001305761.1:p.Ser1319=
NM_001363528.1:c.3927C>T	NP_001350457.1:p.Ser1309=
NM_021055.2:c.3996C>T	NP_066399.2:p.Ser1332=
XM_005255531.4:c.3927C>T	XP_005255588.2:p.Ser1309=
XM_011522636.2:c.4179C>T	XP_011520938.1:p.Ser1393=
XM_011522637.2:c.4176C>T	XP_011520939.1:p.Ser1392=
XM_011522638.2:c.4341C>T	XP_011520940.2:p.Ser1447=
XM_011522639.2:c.4050C>T	XP_011520941.1:p.Ser1350=
XM_011522640.2:c.4047C>T	XP_011520942.1:p.Ser1349=
XM_017023615.1:c.4122C>T	XP_016879104.1:p.Ser1374=
XM_017023616.1:c.3993C>T	XP_016879105.1:p.Ser1331=
XM_017023617.1:c.4089C>T	XP_016879106.1:p.Ser1363=
XM_017023618.1:c.2835C>T	XP_016879107.1:p.Ser945=
XM_024450413.1:c.3924C>T	XP_024306181.1:p.Ser1308=
NM_000548.5:c.4125C>T MANE Select	NP_000539.2:p.Ser1375=
NM_001370404.1:c.3993C>T	NP_001357333.1:p.Ser1331=
NM_001370405.1:c.3996C>T	NP_001357334.1:p.Ser1332=
NM_001077183.3:c.3924C>T	NP_001070651.1:p.Ser1308=
NM_001114382.3:c.4056C>T	NP_001107854.1:p.Ser1352=
NM_001318827.2:c.3816C>T	NP_001305756.1:p.Ser1272=
NM_001318829.2:c.3780C>T	NP_001305758.1:p.Ser1260=
NM_001318831.2:c.3393C>T	NP_001305760.1:p.Ser1131=
NM_001318832.2:c.3957C>T	NP_001305761.1:p.Ser1319=
NM_001363528.2:c.3927C>T	NP_001350457.1:p.Ser1309=
NM_021055.3:c.3996C>T	NP_066399.2:p.Ser1332=