Canonical Allele Identifier: CA10603365

Gene: TSC2

Linked Data

• ClinVar Variation Id: 280596
• ClinVar RCV Id: RCV000267161 ; RCV001042530 ; RCV002288954
• dbSNP Id: rs886041772
• COSMIC: COSM4940959 ; COSM4940960
• MyVariant Identifiers: chr16:g.2134406C>T (hg19) ; chr16:g.2084405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084405C>T , CM000678.2:g.2084405C>T	GRCh38
NC_000016.9:g.2134406C>T , CM000678.1:g.2134406C>T	GRCh37
NC_000016.8:g.2074407C>T	NCBI36
NG_005895.1:g.40100C>T , LRG_487:g.40100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2532C>T	ENSP00000455997.2:n.*2532C>T
ENST00000642206.2:c.4030C>T	ENSP00000495146.2:p.Gln1344Ter
ENST00000642365.2:c.4180C>T	ENSP00000495459.2:p.Gln1394Ter
ENST00000644417.2:c.*4563C>T	ENSP00000493912.2:n.*4563C>T
ENST00000646464.2:c.*6932C>T	ENSP00000496610.2:n.*6932C>T
ENST00000219476.9:c.4183C>T MANE Select	ENSP00000219476.3:p.Gln1395Ter
ENST00000350773.9:c.4114C>T	ENSP00000344383.4:p.Gln1372Ter
ENST00000401874.7:c.3982C>T	ENSP00000384468.2:p.Gln1328Ter
ENST00000568454.6:c.4015C>T	ENSP00000454487.1:p.Gln1339Ter
ENST00000569110.2:c.419C>T
ENST00000569930.2:n.2065C>T
ENST00000642365.1:c.2837C>T
ENST00000642561.1:c.4054C>T	ENSP00000495099.1:p.Gln1352Ter
ENST00000642728.1:n.365C>T
ENST00000642797.1:c.3985C>T	ENSP00000493846.1:p.Gln1329Ter
ENST00000642936.1:c.4051C>T	ENSP00000494514.1:p.Gln1351Ter
ENST00000643088.1:c.3982C>T	ENSP00000494747.1:p.Gln1328Ter
ENST00000643177.1:n.197C>T
ENST00000643426.1:n.1831C>T
ENST00000643946.1:c.4114C>T	ENSP00000495927.1:p.Gln1372Ter
ENST00000644043.1:c.4054C>T	ENSP00000496262.1:p.Gln1352Ter
ENST00000644329.1:c.3982C>T	ENSP00000496611.1:p.Gln1328Ter
ENST00000644335.1:c.3985C>T	ENSP00000496317.1:p.Gln1329Ter
ENST00000644399.1:c.4104C>T
ENST00000645024.1:n.2267C>T
ENST00000645186.1:c.426C>T
ENST00000646388.1:c.4183C>T	ENSP00000495921.1:p.Gln1395Ter
ENST00000646634.1:n.2998C>T
ENST00000646674.1:n.1435C>T
ENST00000647042.1:n.1406C>T
ENST00000647180.1:n.1296C>T
ENST00000219476.7:c.4183C>T	ENSP00000219476.3:p.Gln1395Ter
ENST00000350773.8:c.4114C>T	ENSP00000344383.4:p.Gln1372Ter
ENST00000382538.10:c.3838C>T	ENSP00000371978.6:p.Gln1280Ter
ENST00000401874.6:c.3982C>T	ENSP00000384468.2:p.Gln1328Ter
ENST00000439117.6:c.*3350C>T	ENSP00000406980.2:n.*3350C>T
ENST00000439673.6:c.3874C>T	ENSP00000399232.2:p.Gln1292Ter
ENST00000497886.5:n.1941C>T
ENST00000568454.5:c.4015C>T	ENSP00000454487.1:p.Gln1339Ter
ENST00000569110.1:c.365C>T
ENST00000569930.1:n.1298C>T
NM_000548.3:c.4183C>T , LRG_487t1:c.4183C>T	NP_000539.2:p.Gln1395Ter
NM_001077183.1:c.3982C>T	NP_001070651.1:p.Gln1328Ter
NM_001114382.1:c.4114C>T	NP_001107854.1:p.Gln1372Ter
XM_005255529.3:c.4054C>T	XP_005255586.2:p.Gln1352Ter
XM_005255531.3:c.3985C>T	XP_005255588.2:p.Gln1329Ter
XM_011522636.1:c.4237C>T	XP_011520938.1:p.Gln1413Ter
XM_011522637.1:c.4234C>T	XP_011520939.1:p.Gln1412Ter
XM_011522638.1:c.4126C>T	XP_011520940.1:p.Gln1376Ter
XM_011522639.1:c.4108C>T	XP_011520941.1:p.Gln1370Ter
XM_011522640.1:c.4105C>T	XP_011520942.1:p.Gln1369Ter
XM_011522641.1:c.3874C>T	XP_011520943.1:p.Gln1292Ter
NM_000548.4:c.4183C>T	NP_000539.2:p.Gln1395Ter
NM_001077183.2:c.3982C>T	NP_001070651.1:p.Gln1328Ter
NM_001114382.2:c.4114C>T	NP_001107854.1:p.Gln1372Ter
NM_001318827.1:c.3874C>T	NP_001305756.1:p.Gln1292Ter
NM_001318829.1:c.3838C>T	NP_001305758.1:p.Gln1280Ter
NM_001318831.1:c.3451C>T	NP_001305760.1:p.Gln1151Ter
NM_001318832.1:c.4015C>T	NP_001305761.1:p.Gln1339Ter
NM_001363528.1:c.3985C>T	NP_001350457.1:p.Gln1329Ter
NM_021055.2:c.4054C>T	NP_066399.2:p.Gln1352Ter
XM_005255531.4:c.3985C>T	XP_005255588.2:p.Gln1329Ter
XM_011522636.2:c.4237C>T	XP_011520938.1:p.Gln1413Ter
XM_011522637.2:c.4234C>T	XP_011520939.1:p.Gln1412Ter
XM_011522638.2:c.4399C>T	XP_011520940.2:p.Gln1467Ter
XM_011522639.2:c.4108C>T	XP_011520941.1:p.Gln1370Ter
XM_011522640.2:c.4105C>T	XP_011520942.1:p.Gln1369Ter
XM_017023615.1:c.4180C>T	XP_016879104.1:p.Gln1394Ter
XM_017023616.1:c.4051C>T	XP_016879105.1:p.Gln1351Ter
XM_017023617.1:c.4147C>T	XP_016879106.1:p.Gln1383Ter
XM_017023618.1:c.2893C>T	XP_016879107.1:p.Gln965Ter
XM_024450413.1:c.3982C>T	XP_024306181.1:p.Gln1328Ter
NM_000548.5:c.4183C>T MANE Select	NP_000539.2:p.Gln1395Ter
NM_001370404.1:c.4051C>T	NP_001357333.1:p.Gln1351Ter
NM_001370405.1:c.4054C>T	NP_001357334.1:p.Gln1352Ter
NM_001077183.3:c.3982C>T	NP_001070651.1:p.Gln1328Ter
NM_001114382.3:c.4114C>T	NP_001107854.1:p.Gln1372Ter
NM_001318827.2:c.3874C>T	NP_001305756.1:p.Gln1292Ter
NM_001318829.2:c.3838C>T	NP_001305758.1:p.Gln1280Ter
NM_001318831.2:c.3451C>T	NP_001305760.1:p.Gln1151Ter
NM_001318832.2:c.4015C>T	NP_001305761.1:p.Gln1339Ter
NM_001363528.2:c.3985C>T	NP_001350457.1:p.Gln1329Ter
NM_021055.3:c.4054C>T	NP_066399.2:p.Gln1352Ter