Canonical Allele Identifier: CA020803

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65095
• ClinVar RCV Id: RCV000055306 ; RCV003512006
• dbSNP Id: rs397515070
• MyVariant Identifiers: chr16:g.2135304T>C (hg19) ; chr16:g.2085303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085303T>C , CM000678.2:g.2085303T>C	GRCh38
NC_000016.9:g.2135304T>C , CM000678.1:g.2135304T>C	GRCh37
NC_000016.8:g.2075305T>C	NCBI36
NG_005895.1:g.40998T>C , LRG_487:g.40998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2992T>C	ENSP00000455997.2:n.*2992T>C
ENST00000642206.2:c.4490T>C	ENSP00000495146.2:p.Leu1497Pro
ENST00000642365.2:c.4640T>C	ENSP00000495459.2:p.Leu1547Pro
ENST00000644417.2:c.*5023T>C	ENSP00000493912.2:n.*5023T>C
ENST00000646464.2:c.*7392T>C	ENSP00000496610.2:n.*7392T>C
ENST00000219476.9:c.4643T>C MANE Select	ENSP00000219476.3:p.Leu1548Pro
ENST00000350773.9:c.4574T>C	ENSP00000344383.4:p.Leu1525Pro
ENST00000401874.7:c.4442T>C	ENSP00000384468.2:p.Leu1481Pro
ENST00000568454.6:c.4475T>C	ENSP00000454487.1:p.Leu1492Pro
ENST00000569110.2:c.866T>C
ENST00000569930.2:n.2525T>C
ENST00000642365.1:c.3297T>C
ENST00000642561.1:c.4514T>C	ENSP00000495099.1:p.Leu1505Pro
ENST00000642728.1:n.825T>C
ENST00000642791.1:n.240T>C
ENST00000642797.1:c.4445T>C	ENSP00000493846.1:p.Leu1482Pro
ENST00000642936.1:c.4511T>C	ENSP00000494514.1:p.Leu1504Pro
ENST00000643088.1:c.4436T>C	ENSP00000494747.1:p.Leu1479Pro
ENST00000643177.1:n.657T>C
ENST00000643426.1:n.2291T>C
ENST00000643946.1:c.4568T>C	ENSP00000495927.1:p.Leu1523Pro
ENST00000644043.1:c.4514T>C	ENSP00000496262.1:p.Leu1505Pro
ENST00000644278.1:n.125T>C
ENST00000644329.1:c.4442T>C	ENSP00000496611.1:p.Leu1481Pro
ENST00000644335.1:c.4439T>C	ENSP00000496317.1:p.Leu1480Pro
ENST00000644399.1:c.4564T>C
ENST00000645024.1:n.2727T>C
ENST00000646388.1:c.4637T>C	ENSP00000495921.1:p.Leu1546Pro
ENST00000646634.1:n.3458T>C
ENST00000646674.1:n.1895T>C
ENST00000647042.1:n.1866T>C
ENST00000647180.1:n.1756T>C
ENST00000219476.7:c.4643T>C	ENSP00000219476.3:p.Leu1548Pro
ENST00000350773.8:c.4574T>C	ENSP00000344383.4:p.Leu1525Pro
ENST00000382538.10:c.4298T>C	ENSP00000371978.6:p.Leu1433Pro
ENST00000401874.6:c.4442T>C	ENSP00000384468.2:p.Leu1481Pro
ENST00000439117.6:c.*3810T>C	ENSP00000406980.2:n.*3810T>C
ENST00000439673.6:c.4334T>C	ENSP00000399232.2:p.Leu1445Pro
ENST00000497886.5:n.2401T>C
ENST00000568454.5:c.4475T>C	ENSP00000454487.1:p.Leu1492Pro
ENST00000569110.1:c.825T>C
ENST00000569930.1:n.1758T>C
NM_000548.3:c.4643T>C , LRG_487t1:c.4643T>C	NP_000539.2:p.Leu1548Pro
NM_001077183.1:c.4442T>C	NP_001070651.1:p.Leu1481Pro
NM_001114382.1:c.4574T>C	NP_001107854.1:p.Leu1525Pro
XM_005255529.3:c.4514T>C	XP_005255586.2:p.Leu1505Pro
XM_005255531.3:c.4445T>C	XP_005255588.2:p.Leu1482Pro
XM_011522636.1:c.4697T>C	XP_011520938.1:p.Leu1566Pro
XM_011522637.1:c.4694T>C	XP_011520939.1:p.Leu1565Pro
XM_011522638.1:c.4586T>C	XP_011520940.1:p.Leu1529Pro
XM_011522639.1:c.4568T>C	XP_011520941.1:p.Leu1523Pro
XM_011522640.1:c.4565T>C	XP_011520942.1:p.Leu1522Pro
XM_011522641.1:c.4334T>C	XP_011520943.1:p.Leu1445Pro
NM_000548.4:c.4643T>C	NP_000539.2:p.Leu1548Pro
NM_001077183.2:c.4442T>C	NP_001070651.1:p.Leu1481Pro
NM_001114382.2:c.4574T>C	NP_001107854.1:p.Leu1525Pro
NM_001318827.1:c.4334T>C	NP_001305756.1:p.Leu1445Pro
NM_001318829.1:c.4298T>C	NP_001305758.1:p.Leu1433Pro
NM_001318831.1:c.3911T>C	NP_001305760.1:p.Leu1304Pro
NM_001318832.1:c.4475T>C	NP_001305761.1:p.Leu1492Pro
NM_001363528.1:c.4445T>C	NP_001350457.1:p.Leu1482Pro
NM_021055.2:c.4514T>C	NP_066399.2:p.Leu1505Pro
XM_005255531.4:c.4445T>C	XP_005255588.2:p.Leu1482Pro
XM_011522636.2:c.4697T>C	XP_011520938.1:p.Leu1566Pro
XM_011522637.2:c.4694T>C	XP_011520939.1:p.Leu1565Pro
XM_011522638.2:c.4859T>C	XP_011520940.2:p.Leu1620Pro
XM_011522639.2:c.4568T>C	XP_011520941.1:p.Leu1523Pro
XM_011522640.2:c.4565T>C	XP_011520942.1:p.Leu1522Pro
XM_017023615.1:c.4640T>C	XP_016879104.1:p.Leu1547Pro
XM_017023616.1:c.4511T>C	XP_016879105.1:p.Leu1504Pro
XM_017023617.1:c.4607T>C	XP_016879106.1:p.Leu1536Pro
XM_017023618.1:c.3353T>C	XP_016879107.1:p.Leu1118Pro
XM_024450413.1:c.4442T>C	XP_024306181.1:p.Leu1481Pro
NM_000548.5:c.4643T>C MANE Select	NP_000539.2:p.Leu1548Pro
NM_001370404.1:c.4511T>C	NP_001357333.1:p.Leu1504Pro
NM_001370405.1:c.4514T>C	NP_001357334.1:p.Leu1505Pro
NM_001077183.3:c.4442T>C	NP_001070651.1:p.Leu1481Pro
NM_001114382.3:c.4574T>C	NP_001107854.1:p.Leu1525Pro
NM_001318827.2:c.4334T>C	NP_001305756.1:p.Leu1445Pro
NM_001318829.2:c.4298T>C	NP_001305758.1:p.Leu1433Pro
NM_001318831.2:c.3911T>C	NP_001305760.1:p.Leu1304Pro
NM_001318832.2:c.4475T>C	NP_001305761.1:p.Leu1492Pro
NM_001363528.2:c.4445T>C	NP_001350457.1:p.Leu1482Pro
NM_021055.3:c.4514T>C	NP_066399.2:p.Leu1505Pro