Canonical Allele Identifier: CA020121

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49821
• ClinVar RCV Id: RCV000043087 ; RCV000760367 ; RCV002326762 ; RCV001852897
• dbSNP Id: rs45437193
• MyVariant Identifiers: chr16:g.2134478C>T (hg19) ; chr16:g.2084477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084477C>T , CM000678.2:g.2084477C>T	GRCh38
NC_000016.9:g.2134478C>T , CM000678.1:g.2134478C>T	GRCh37
NC_000016.8:g.2074479C>T	NCBI36
NG_005895.1:g.40172C>T , LRG_487:g.40172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2604C>T	ENSP00000455997.2:n.*2604C>T
ENST00000642206.2:c.4102C>T	ENSP00000495146.2:p.Gln1368Ter
ENST00000642365.2:c.4252C>T	ENSP00000495459.2:p.Gln1418Ter
ENST00000644417.2:c.*4635C>T	ENSP00000493912.2:n.*4635C>T
ENST00000646464.2:c.*7004C>T	ENSP00000496610.2:n.*7004C>T
ENST00000219476.9:c.4255C>T MANE Select	ENSP00000219476.3:p.Gln1419Ter
ENST00000350773.9:c.4186C>T	ENSP00000344383.4:p.Gln1396Ter
ENST00000401874.7:c.4054C>T	ENSP00000384468.2:p.Gln1352Ter
ENST00000568454.6:c.4087C>T	ENSP00000454487.1:p.Gln1363Ter
ENST00000569110.2:c.491C>T
ENST00000569930.2:n.2137C>T
ENST00000642365.1:c.2909C>T
ENST00000642561.1:c.4126C>T	ENSP00000495099.1:p.Gln1376Ter
ENST00000642728.1:n.437C>T
ENST00000642797.1:c.4057C>T	ENSP00000493846.1:p.Gln1353Ter
ENST00000642936.1:c.4123C>T	ENSP00000494514.1:p.Gln1375Ter
ENST00000643088.1:c.4054C>T	ENSP00000494747.1:p.Gln1352Ter
ENST00000643177.1:n.269C>T
ENST00000643426.1:n.1903C>T
ENST00000643946.1:c.4186C>T	ENSP00000495927.1:p.Gln1396Ter
ENST00000644043.1:c.4126C>T	ENSP00000496262.1:p.Gln1376Ter
ENST00000644329.1:c.4054C>T	ENSP00000496611.1:p.Gln1352Ter
ENST00000644335.1:c.4057C>T	ENSP00000496317.1:p.Gln1353Ter
ENST00000644399.1:c.4176C>T
ENST00000645024.1:n.2339C>T
ENST00000645186.1:c.498C>T
ENST00000646388.1:c.4255C>T	ENSP00000495921.1:p.Gln1419Ter
ENST00000646634.1:n.3070C>T
ENST00000646674.1:n.1507C>T
ENST00000647042.1:n.1478C>T
ENST00000647180.1:n.1368C>T
ENST00000219476.7:c.4255C>T	ENSP00000219476.3:p.Gln1419Ter
ENST00000350773.8:c.4186C>T	ENSP00000344383.4:p.Gln1396Ter
ENST00000382538.10:c.3910C>T	ENSP00000371978.6:p.Gln1304Ter
ENST00000401874.6:c.4054C>T	ENSP00000384468.2:p.Gln1352Ter
ENST00000439117.6:c.*3422C>T	ENSP00000406980.2:n.*3422C>T
ENST00000439673.6:c.3946C>T	ENSP00000399232.2:p.Gln1316Ter
ENST00000497886.5:n.2013C>T
ENST00000568454.5:c.4087C>T	ENSP00000454487.1:p.Gln1363Ter
ENST00000569110.1:c.437C>T
ENST00000569930.1:n.1370C>T
NM_000548.3:c.4255C>T , LRG_487t1:c.4255C>T	NP_000539.2:p.Gln1419Ter
NM_001077183.1:c.4054C>T	NP_001070651.1:p.Gln1352Ter
NM_001114382.1:c.4186C>T	NP_001107854.1:p.Gln1396Ter
XM_005255529.3:c.4126C>T	XP_005255586.2:p.Gln1376Ter
XM_005255531.3:c.4057C>T	XP_005255588.2:p.Gln1353Ter
XM_011522636.1:c.4309C>T	XP_011520938.1:p.Gln1437Ter
XM_011522637.1:c.4306C>T	XP_011520939.1:p.Gln1436Ter
XM_011522638.1:c.4198C>T	XP_011520940.1:p.Gln1400Ter
XM_011522639.1:c.4180C>T	XP_011520941.1:p.Gln1394Ter
XM_011522640.1:c.4177C>T	XP_011520942.1:p.Gln1393Ter
XM_011522641.1:c.3946C>T	XP_011520943.1:p.Gln1316Ter
NM_000548.4:c.4255C>T	NP_000539.2:p.Gln1419Ter
NM_001077183.2:c.4054C>T	NP_001070651.1:p.Gln1352Ter
NM_001114382.2:c.4186C>T	NP_001107854.1:p.Gln1396Ter
NM_001318827.1:c.3946C>T	NP_001305756.1:p.Gln1316Ter
NM_001318829.1:c.3910C>T	NP_001305758.1:p.Gln1304Ter
NM_001318831.1:c.3523C>T	NP_001305760.1:p.Gln1175Ter
NM_001318832.1:c.4087C>T	NP_001305761.1:p.Gln1363Ter
NM_001363528.1:c.4057C>T	NP_001350457.1:p.Gln1353Ter
NM_021055.2:c.4126C>T	NP_066399.2:p.Gln1376Ter
XM_005255531.4:c.4057C>T	XP_005255588.2:p.Gln1353Ter
XM_011522636.2:c.4309C>T	XP_011520938.1:p.Gln1437Ter
XM_011522637.2:c.4306C>T	XP_011520939.1:p.Gln1436Ter
XM_011522638.2:c.4471C>T	XP_011520940.2:p.Gln1491Ter
XM_011522639.2:c.4180C>T	XP_011520941.1:p.Gln1394Ter
XM_011522640.2:c.4177C>T	XP_011520942.1:p.Gln1393Ter
XM_017023615.1:c.4252C>T	XP_016879104.1:p.Gln1418Ter
XM_017023616.1:c.4123C>T	XP_016879105.1:p.Gln1375Ter
XM_017023617.1:c.4219C>T	XP_016879106.1:p.Gln1407Ter
XM_017023618.1:c.2965C>T	XP_016879107.1:p.Gln989Ter
XM_024450413.1:c.4054C>T	XP_024306181.1:p.Gln1352Ter
NM_000548.5:c.4255C>T MANE Select	NP_000539.2:p.Gln1419Ter
NM_001370404.1:c.4123C>T	NP_001357333.1:p.Gln1375Ter
NM_001370405.1:c.4126C>T	NP_001357334.1:p.Gln1376Ter
NM_001077183.3:c.4054C>T	NP_001070651.1:p.Gln1352Ter
NM_001114382.3:c.4186C>T	NP_001107854.1:p.Gln1396Ter
NM_001318827.2:c.3946C>T	NP_001305756.1:p.Gln1316Ter
NM_001318829.2:c.3910C>T	NP_001305758.1:p.Gln1304Ter
NM_001318831.2:c.3523C>T	NP_001305760.1:p.Gln1175Ter
NM_001318832.2:c.4087C>T	NP_001305761.1:p.Gln1363Ter
NM_001363528.2:c.4057C>T	NP_001350457.1:p.Gln1353Ter
NM_021055.3:c.4126C>T	NP_066399.2:p.Gln1376Ter