Canonical Allele Identifier: CA019843

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65012
• ClinVar RCV Id: RCV000055216 ; RCV001387404
• dbSNP Id: rs397515003
• MyVariant Identifiers: chr16:g.2134247C>T (hg19) ; chr16:g.2084246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084246C>T , CM000678.2:g.2084246C>T	GRCh38
NC_000016.9:g.2134247C>T , CM000678.1:g.2134247C>T	GRCh37
NC_000016.8:g.2074248C>T	NCBI36
NG_005895.1:g.39941C>T , LRG_487:g.39941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2373C>T	ENSP00000455997.2:n.*2373C>T
ENST00000642206.2:c.3871C>T	ENSP00000495146.2:p.Gln1291Ter
ENST00000642365.2:c.4021C>T	ENSP00000495459.2:p.Gln1341Ter
ENST00000644417.2:c.*4404C>T	ENSP00000493912.2:n.*4404C>T
ENST00000646464.2:c.*6773C>T	ENSP00000496610.2:n.*6773C>T
ENST00000219476.9:c.4024C>T MANE Select	ENSP00000219476.3:p.Gln1342Ter
ENST00000350773.9:c.3955C>T	ENSP00000344383.4:p.Gln1319Ter
ENST00000401874.7:c.3823C>T	ENSP00000384468.2:p.Gln1275Ter
ENST00000568454.6:c.3856C>T	ENSP00000454487.1:p.Gln1286Ter
ENST00000569110.2:c.260C>T
ENST00000569930.2:n.1906C>T
ENST00000642365.1:c.2678C>T
ENST00000642561.1:c.3895C>T	ENSP00000495099.1:p.Gln1299Ter
ENST00000642728.1:n.206C>T
ENST00000642797.1:c.3826C>T	ENSP00000493846.1:p.Gln1276Ter
ENST00000642936.1:c.3892C>T	ENSP00000494514.1:p.Gln1298Ter
ENST00000643088.1:c.3823C>T	ENSP00000494747.1:p.Gln1275Ter
ENST00000643177.1:n.38C>T
ENST00000643426.1:n.1672C>T
ENST00000643533.1:n.465C>T
ENST00000643946.1:c.3955C>T	ENSP00000495927.1:p.Gln1319Ter
ENST00000644043.1:c.3895C>T	ENSP00000496262.1:p.Gln1299Ter
ENST00000644329.1:c.3823C>T	ENSP00000496611.1:p.Gln1275Ter
ENST00000644335.1:c.3826C>T	ENSP00000496317.1:p.Gln1276Ter
ENST00000644399.1:c.3945C>T
ENST00000645024.1:n.2108C>T
ENST00000645186.1:c.267C>T
ENST00000646388.1:c.4024C>T	ENSP00000495921.1:p.Gln1342Ter
ENST00000646634.1:n.2839C>T
ENST00000646674.1:n.1276C>T
ENST00000647042.1:n.1247C>T
ENST00000647180.1:n.1137C>T
ENST00000219476.7:c.4024C>T	ENSP00000219476.3:p.Gln1342Ter
ENST00000350773.8:c.3955C>T	ENSP00000344383.4:p.Gln1319Ter
ENST00000382538.10:c.3679C>T	ENSP00000371978.6:p.Gln1227Ter
ENST00000401874.6:c.3823C>T	ENSP00000384468.2:p.Gln1275Ter
ENST00000439117.6:c.*3191C>T	ENSP00000406980.2:n.*3191C>T
ENST00000439673.6:c.3715C>T	ENSP00000399232.2:p.Gln1239Ter
ENST00000497886.5:n.1782C>T
ENST00000568454.5:c.3856C>T	ENSP00000454487.1:p.Gln1286Ter
ENST00000569110.1:c.206C>T
ENST00000569930.1:n.1139C>T
NM_000548.3:c.4024C>T , LRG_487t1:c.4024C>T	NP_000539.2:p.Gln1342Ter
NM_001077183.1:c.3823C>T	NP_001070651.1:p.Gln1275Ter
NM_001114382.1:c.3955C>T	NP_001107854.1:p.Gln1319Ter
XM_005255529.3:c.3895C>T	XP_005255586.2:p.Gln1299Ter
XM_005255531.3:c.3826C>T	XP_005255588.2:p.Gln1276Ter
XM_011522636.1:c.4078C>T	XP_011520938.1:p.Gln1360Ter
XM_011522637.1:c.4075C>T	XP_011520939.1:p.Gln1359Ter
XM_011522638.1:c.3967C>T	XP_011520940.1:p.Gln1323Ter
XM_011522639.1:c.3949C>T	XP_011520941.1:p.Gln1317Ter
XM_011522640.1:c.3946C>T	XP_011520942.1:p.Gln1316Ter
XM_011522641.1:c.3715C>T	XP_011520943.1:p.Gln1239Ter
NM_000548.4:c.4024C>T	NP_000539.2:p.Gln1342Ter
NM_001077183.2:c.3823C>T	NP_001070651.1:p.Gln1275Ter
NM_001114382.2:c.3955C>T	NP_001107854.1:p.Gln1319Ter
NM_001318827.1:c.3715C>T	NP_001305756.1:p.Gln1239Ter
NM_001318829.1:c.3679C>T	NP_001305758.1:p.Gln1227Ter
NM_001318831.1:c.3292C>T	NP_001305760.1:p.Gln1098Ter
NM_001318832.1:c.3856C>T	NP_001305761.1:p.Gln1286Ter
NM_001363528.1:c.3826C>T	NP_001350457.1:p.Gln1276Ter
NM_021055.2:c.3895C>T	NP_066399.2:p.Gln1299Ter
XM_005255531.4:c.3826C>T	XP_005255588.2:p.Gln1276Ter
XM_011522636.2:c.4078C>T	XP_011520938.1:p.Gln1360Ter
XM_011522637.2:c.4075C>T	XP_011520939.1:p.Gln1359Ter
XM_011522638.2:c.4240C>T	XP_011520940.2:p.Gln1414Ter
XM_011522639.2:c.3949C>T	XP_011520941.1:p.Gln1317Ter
XM_011522640.2:c.3946C>T	XP_011520942.1:p.Gln1316Ter
XM_017023615.1:c.4021C>T	XP_016879104.1:p.Gln1341Ter
XM_017023616.1:c.3892C>T	XP_016879105.1:p.Gln1298Ter
XM_017023617.1:c.3988C>T	XP_016879106.1:p.Gln1330Ter
XM_017023618.1:c.2734C>T	XP_016879107.1:p.Gln912Ter
XM_024450413.1:c.3823C>T	XP_024306181.1:p.Gln1275Ter
NM_000548.5:c.4024C>T MANE Select	NP_000539.2:p.Gln1342Ter
NM_001370404.1:c.3892C>T	NP_001357333.1:p.Gln1298Ter
NM_001370405.1:c.3895C>T	NP_001357334.1:p.Gln1299Ter
NM_001077183.3:c.3823C>T	NP_001070651.1:p.Gln1275Ter
NM_001114382.3:c.3955C>T	NP_001107854.1:p.Gln1319Ter
NM_001318827.2:c.3715C>T	NP_001305756.1:p.Gln1239Ter
NM_001318829.2:c.3679C>T	NP_001305758.1:p.Gln1227Ter
NM_001318831.2:c.3292C>T	NP_001305760.1:p.Gln1098Ter
NM_001318832.2:c.3856C>T	NP_001305761.1:p.Gln1286Ter
NM_001363528.2:c.3826C>T	NP_001350457.1:p.Gln1276Ter
NM_021055.3:c.3895C>T	NP_066399.2:p.Gln1299Ter