Canonical Allele Identifier: CA020214

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49516
• ClinVar RCV Id: RCV000042776 ; RCV001070626
• dbSNP Id: rs45517335
• COSMIC: COSM1609074 ; COSM1609075
• MyVariant Identifiers: chr16:g.2134521C>A (hg19) ; chr16:g.2084520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084520C>A , CM000678.2:g.2084520C>A	GRCh38
NC_000016.9:g.2134521C>A , CM000678.1:g.2134521C>A	GRCh37
NC_000016.8:g.2074522C>A	NCBI36
NG_005895.1:g.40215C>A , LRG_487:g.40215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2647C>A	ENSP00000455997.2:n.*2647C>A
ENST00000642206.2:c.4145C>A	ENSP00000495146.2:p.Ser1382Ter
ENST00000642365.2:c.4295C>A	ENSP00000495459.2:p.Ser1432Ter
ENST00000644417.2:c.*4678C>A	ENSP00000493912.2:n.*4678C>A
ENST00000646464.2:c.*7047C>A	ENSP00000496610.2:n.*7047C>A
ENST00000219476.9:c.4298C>A MANE Select	ENSP00000219476.3:p.Ser1433Ter
ENST00000350773.9:c.4229C>A	ENSP00000344383.4:p.Ser1410Ter
ENST00000401874.7:c.4097C>A	ENSP00000384468.2:p.Ser1366Ter
ENST00000568454.6:c.4130C>A	ENSP00000454487.1:p.Ser1377Ter
ENST00000569110.2:c.534C>A
ENST00000569930.2:n.2180C>A
ENST00000642365.1:c.2952C>A
ENST00000642561.1:c.4169C>A	ENSP00000495099.1:p.Ser1390Ter
ENST00000642728.1:n.480C>A
ENST00000642797.1:c.4100C>A	ENSP00000493846.1:p.Ser1367Ter
ENST00000642936.1:c.4166C>A	ENSP00000494514.1:p.Ser1389Ter
ENST00000643088.1:c.4097C>A	ENSP00000494747.1:p.Ser1366Ter
ENST00000643177.1:n.312C>A
ENST00000643426.1:n.1946C>A
ENST00000643946.1:c.4229C>A	ENSP00000495927.1:p.Ser1410Ter
ENST00000644043.1:c.4169C>A	ENSP00000496262.1:p.Ser1390Ter
ENST00000644329.1:c.4097C>A	ENSP00000496611.1:p.Ser1366Ter
ENST00000644335.1:c.4100C>A	ENSP00000496317.1:p.Ser1367Ter
ENST00000644399.1:c.4219C>A
ENST00000645024.1:n.2382C>A
ENST00000645186.1:c.541C>A
ENST00000646388.1:c.4298C>A	ENSP00000495921.1:p.Ser1433Ter
ENST00000646634.1:n.3113C>A
ENST00000646674.1:n.1550C>A
ENST00000647042.1:n.1521C>A
ENST00000647180.1:n.1411C>A
ENST00000219476.7:c.4298C>A	ENSP00000219476.3:p.Ser1433Ter
ENST00000350773.8:c.4229C>A	ENSP00000344383.4:p.Ser1410Ter
ENST00000382538.10:c.3953C>A	ENSP00000371978.6:p.Ser1318Ter
ENST00000401874.6:c.4097C>A	ENSP00000384468.2:p.Ser1366Ter
ENST00000439117.6:c.*3465C>A	ENSP00000406980.2:n.*3465C>A
ENST00000439673.6:c.3989C>A	ENSP00000399232.2:p.Ser1330Ter
ENST00000497886.5:n.2056C>A
ENST00000568454.5:c.4130C>A	ENSP00000454487.1:p.Ser1377Ter
ENST00000569110.1:c.480C>A
ENST00000569930.1:n.1413C>A
NM_000548.3:c.4298C>A , LRG_487t1:c.4298C>A	NP_000539.2:p.Ser1433Ter
NM_001077183.1:c.4097C>A	NP_001070651.1:p.Ser1366Ter
NM_001114382.1:c.4229C>A	NP_001107854.1:p.Ser1410Ter
XM_005255529.3:c.4169C>A	XP_005255586.2:p.Ser1390Ter
XM_005255531.3:c.4100C>A	XP_005255588.2:p.Ser1367Ter
XM_011522636.1:c.4352C>A	XP_011520938.1:p.Ser1451Ter
XM_011522637.1:c.4349C>A	XP_011520939.1:p.Ser1450Ter
XM_011522638.1:c.4241C>A	XP_011520940.1:p.Ser1414Ter
XM_011522639.1:c.4223C>A	XP_011520941.1:p.Ser1408Ter
XM_011522640.1:c.4220C>A	XP_011520942.1:p.Ser1407Ter
XM_011522641.1:c.3989C>A	XP_011520943.1:p.Ser1330Ter
NM_000548.4:c.4298C>A	NP_000539.2:p.Ser1433Ter
NM_001077183.2:c.4097C>A	NP_001070651.1:p.Ser1366Ter
NM_001114382.2:c.4229C>A	NP_001107854.1:p.Ser1410Ter
NM_001318827.1:c.3989C>A	NP_001305756.1:p.Ser1330Ter
NM_001318829.1:c.3953C>A	NP_001305758.1:p.Ser1318Ter
NM_001318831.1:c.3566C>A	NP_001305760.1:p.Ser1189Ter
NM_001318832.1:c.4130C>A	NP_001305761.1:p.Ser1377Ter
NM_001363528.1:c.4100C>A	NP_001350457.1:p.Ser1367Ter
NM_021055.2:c.4169C>A	NP_066399.2:p.Ser1390Ter
XM_005255531.4:c.4100C>A	XP_005255588.2:p.Ser1367Ter
XM_011522636.2:c.4352C>A	XP_011520938.1:p.Ser1451Ter
XM_011522637.2:c.4349C>A	XP_011520939.1:p.Ser1450Ter
XM_011522638.2:c.4514C>A	XP_011520940.2:p.Ser1505Ter
XM_011522639.2:c.4223C>A	XP_011520941.1:p.Ser1408Ter
XM_011522640.2:c.4220C>A	XP_011520942.1:p.Ser1407Ter
XM_017023615.1:c.4295C>A	XP_016879104.1:p.Ser1432Ter
XM_017023616.1:c.4166C>A	XP_016879105.1:p.Ser1389Ter
XM_017023617.1:c.4262C>A	XP_016879106.1:p.Ser1421Ter
XM_017023618.1:c.3008C>A	XP_016879107.1:p.Ser1003Ter
XM_024450413.1:c.4097C>A	XP_024306181.1:p.Ser1366Ter
NM_000548.5:c.4298C>A MANE Select	NP_000539.2:p.Ser1433Ter
NM_001370404.1:c.4166C>A	NP_001357333.1:p.Ser1389Ter
NM_001370405.1:c.4169C>A	NP_001357334.1:p.Ser1390Ter
NM_001077183.3:c.4097C>A	NP_001070651.1:p.Ser1366Ter
NM_001114382.3:c.4229C>A	NP_001107854.1:p.Ser1410Ter
NM_001318827.2:c.3989C>A	NP_001305756.1:p.Ser1330Ter
NM_001318829.2:c.3953C>A	NP_001305758.1:p.Ser1318Ter
NM_001318831.2:c.3566C>A	NP_001305760.1:p.Ser1189Ter
NM_001318832.2:c.4130C>A	NP_001305761.1:p.Ser1377Ter
NM_001363528.2:c.4100C>A	NP_001350457.1:p.Ser1367Ter
NM_021055.3:c.4169C>A	NP_066399.2:p.Ser1390Ter