Canonical Allele Identifier: CA493043017

Gene: TSC2

Linked Data

• ClinVar Variation Id: 763107
• ClinVar RCV Id: RCV001414918 ; RCV003307743 ; RCV004546584
• dbSNP Id: rs1596415292
• gnomAD v4: 16-2084242-C-T
• MyVariant Identifiers: chr16:g.2134243C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084242C>T , CM000678.2:g.2084242C>T	GRCh38
NC_000016.9:g.2134243C>T , CM000678.1:g.2134243C>T	GRCh37
NC_000016.8:g.2074244C>T	NCBI36
NG_005895.1:g.39937C>T , LRG_487:g.39937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2369C>T	ENSP00000455997.2:n.*2369C>T
ENST00000642206.2:c.3867C>T	ENSP00000495146.2:p.Ser1289=
ENST00000642365.2:c.4017C>T	ENSP00000495459.2:p.Ser1339=
ENST00000644417.2:c.*4400C>T	ENSP00000493912.2:n.*4400C>T
ENST00000646464.2:c.*6769C>T	ENSP00000496610.2:n.*6769C>T
ENST00000219476.9:c.4020C>T MANE Select	ENSP00000219476.3:p.Ser1340=
ENST00000350773.9:c.3951C>T	ENSP00000344383.4:p.Ser1317=
ENST00000401874.7:c.3819C>T	ENSP00000384468.2:p.Ser1273=
ENST00000568454.6:c.3852C>T	ENSP00000454487.1:p.Ser1284=
ENST00000569110.2:c.256C>T
ENST00000569930.2:n.1902C>T
ENST00000642365.1:c.2674C>T
ENST00000642561.1:c.3891C>T	ENSP00000495099.1:p.Ser1297=
ENST00000642728.1:n.202C>T
ENST00000642797.1:c.3822C>T	ENSP00000493846.1:p.Ser1274=
ENST00000642936.1:c.3888C>T	ENSP00000494514.1:p.Ser1296=
ENST00000643088.1:c.3819C>T	ENSP00000494747.1:p.Ser1273=
ENST00000643177.1:n.34C>T
ENST00000643426.1:n.1668C>T
ENST00000643533.1:n.461C>T
ENST00000643946.1:c.3951C>T	ENSP00000495927.1:p.Ser1317=
ENST00000644043.1:c.3891C>T	ENSP00000496262.1:p.Ser1297=
ENST00000644329.1:c.3819C>T	ENSP00000496611.1:p.Ser1273=
ENST00000644335.1:c.3822C>T	ENSP00000496317.1:p.Ser1274=
ENST00000644399.1:c.3941C>T
ENST00000645024.1:n.2104C>T
ENST00000645186.1:c.263C>T
ENST00000646388.1:c.4020C>T	ENSP00000495921.1:p.Ser1340=
ENST00000646634.1:n.2835C>T
ENST00000646674.1:n.1272C>T
ENST00000647042.1:n.1243C>T
ENST00000647180.1:n.1133C>T
ENST00000219476.7:c.4020C>T	ENSP00000219476.3:p.Ser1340=
ENST00000350773.8:c.3951C>T	ENSP00000344383.4:p.Ser1317=
ENST00000382538.10:c.3675C>T	ENSP00000371978.6:p.Ser1225=
ENST00000401874.6:c.3819C>T	ENSP00000384468.2:p.Ser1273=
ENST00000439117.6:c.*3187C>T	ENSP00000406980.2:n.*3187C>T
ENST00000439673.6:c.3711C>T	ENSP00000399232.2:p.Ser1237=
ENST00000497886.5:n.1778C>T
ENST00000568454.5:c.3852C>T	ENSP00000454487.1:p.Ser1284=
ENST00000569110.1:c.202C>T
ENST00000569930.1:n.1135C>T
NM_000548.3:c.4020C>T , LRG_487t1:c.4020C>T	NP_000539.2:p.Ser1340=
NM_001077183.1:c.3819C>T	NP_001070651.1:p.Ser1273=
NM_001114382.1:c.3951C>T	NP_001107854.1:p.Ser1317=
XM_005255529.3:c.3891C>T	XP_005255586.2:p.Ser1297=
XM_005255531.3:c.3822C>T	XP_005255588.2:p.Ser1274=
XM_011522636.1:c.4074C>T	XP_011520938.1:p.Ser1358=
XM_011522637.1:c.4071C>T	XP_011520939.1:p.Ser1357=
XM_011522638.1:c.3963C>T	XP_011520940.1:p.Ser1321=
XM_011522639.1:c.3945C>T	XP_011520941.1:p.Ser1315=
XM_011522640.1:c.3942C>T	XP_011520942.1:p.Ser1314=
XM_011522641.1:c.3711C>T	XP_011520943.1:p.Ser1237=
NM_000548.4:c.4020C>T	NP_000539.2:p.Ser1340=
NM_001077183.2:c.3819C>T	NP_001070651.1:p.Ser1273=
NM_001114382.2:c.3951C>T	NP_001107854.1:p.Ser1317=
NM_001318827.1:c.3711C>T	NP_001305756.1:p.Ser1237=
NM_001318829.1:c.3675C>T	NP_001305758.1:p.Ser1225=
NM_001318831.1:c.3288C>T	NP_001305760.1:p.Ser1096=
NM_001318832.1:c.3852C>T	NP_001305761.1:p.Ser1284=
NM_001363528.1:c.3822C>T	NP_001350457.1:p.Ser1274=
NM_021055.2:c.3891C>T	NP_066399.2:p.Ser1297=
XM_005255531.4:c.3822C>T	XP_005255588.2:p.Ser1274=
XM_011522636.2:c.4074C>T	XP_011520938.1:p.Ser1358=
XM_011522637.2:c.4071C>T	XP_011520939.1:p.Ser1357=
XM_011522638.2:c.4236C>T	XP_011520940.2:p.Ser1412=
XM_011522639.2:c.3945C>T	XP_011520941.1:p.Ser1315=
XM_011522640.2:c.3942C>T	XP_011520942.1:p.Ser1314=
XM_017023615.1:c.4017C>T	XP_016879104.1:p.Ser1339=
XM_017023616.1:c.3888C>T	XP_016879105.1:p.Ser1296=
XM_017023617.1:c.3984C>T	XP_016879106.1:p.Ser1328=
XM_017023618.1:c.2730C>T	XP_016879107.1:p.Ser910=
XM_024450413.1:c.3819C>T	XP_024306181.1:p.Ser1273=
NM_000548.5:c.4020C>T MANE Select	NP_000539.2:p.Ser1340=
NM_001370404.1:c.3888C>T	NP_001357333.1:p.Ser1296=
NM_001370405.1:c.3891C>T	NP_001357334.1:p.Ser1297=
NM_001077183.3:c.3819C>T	NP_001070651.1:p.Ser1273=
NM_001114382.3:c.3951C>T	NP_001107854.1:p.Ser1317=
NM_001318827.2:c.3711C>T	NP_001305756.1:p.Ser1237=
NM_001318829.2:c.3675C>T	NP_001305758.1:p.Ser1225=
NM_001318831.2:c.3288C>T	NP_001305760.1:p.Ser1096=
NM_001318832.2:c.3852C>T	NP_001305761.1:p.Ser1284=
NM_001363528.2:c.3822C>T	NP_001350457.1:p.Ser1274=
NM_021055.3:c.3891C>T	NP_066399.2:p.Ser1297=