Canonical Allele Identifier: CA394315121

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138458A>T (hg19) ; chr16:g.2088457A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088457A>T , CM000678.2:g.2088457A>T	GRCh38
NC_000016.9:g.2138458A>T , CM000678.1:g.2138458A>T	GRCh37
NC_000016.8:g.2078459A>T	NCBI36
NG_005895.1:g.44152A>T , LRG_487:g.44152A>T
NG_008617.1:g.54764T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3620A>T	ENSP00000455997.2:n.*3620A>T
ENST00000642206.2:c.5118A>T	ENSP00000495146.2:p.Glu1706Asp
ENST00000642365.2:c.5268A>T	ENSP00000495459.2:p.Glu1756Asp
ENST00000644417.2:c.*5784A>T	ENSP00000493912.2:n.*5784A>T
ENST00000646464.2:c.*8020A>T	ENSP00000496610.2:n.*8020A>T
ENST00000219476.9:c.5271A>T MANE Select	ENSP00000219476.3:p.Glu1757Asp
ENST00000350773.9:c.5202A>T	ENSP00000344383.4:p.Glu1734Asp
ENST00000401874.7:c.5070A>T	ENSP00000384468.2:p.Glu1690Asp
ENST00000568454.6:c.5103A>T	ENSP00000454487.1:p.Glu1701Asp
ENST00000569110.2:c.1494A>T
ENST00000569930.2:n.3153A>T
ENST00000642365.1:c.3925A>T
ENST00000642561.1:c.5130A>T	ENSP00000495099.1:p.Glu1710Asp
ENST00000642791.1:n.868A>T
ENST00000642797.1:c.5073A>T	ENSP00000493846.1:p.Glu1691Asp
ENST00000642936.1:c.5139A>T	ENSP00000494514.1:p.Glu1713Asp
ENST00000643088.1:c.5064A>T	ENSP00000494747.1:p.Glu1688Asp
ENST00000643426.1:n.2919A>T
ENST00000643946.1:c.5196A>T	ENSP00000495927.1:p.Glu1732Asp
ENST00000644043.1:c.5142A>T	ENSP00000496262.1:p.Glu1714Asp
ENST00000644329.1:c.5157A>T	ENSP00000496611.1:p.Glu1719Asp
ENST00000644335.1:c.5067A>T	ENSP00000496317.1:p.Glu1689Asp
ENST00000644399.1:c.5192A>T
ENST00000645024.1:n.3355A>T
ENST00000646388.1:c.5265A>T	ENSP00000495921.1:p.Glu1755Asp
ENST00000646634.1:n.4086A>T
ENST00000646674.1:n.2523A>T
ENST00000647042.1:n.2494A>T
ENST00000647180.1:n.2384A>T
ENST00000219476.7:c.5271A>T	ENSP00000219476.3:p.Glu1757Asp
ENST00000350773.8:c.5202A>T	ENSP00000344383.4:p.Glu1734Asp
ENST00000382538.10:c.4926A>T	ENSP00000371978.6:p.Glu1642Asp
ENST00000401874.6:c.5070A>T	ENSP00000384468.2:p.Glu1690Asp
ENST00000439117.6:c.*4438A>T	ENSP00000406980.2:n.*4438A>T
ENST00000439673.6:c.4962A>T	ENSP00000399232.2:p.Glu1654Asp
ENST00000497886.5:n.2994A>T
ENST00000568454.5:c.5103A>T	ENSP00000454487.1:p.Glu1701Asp
ENST00000569110.1:c.1453A>T
ENST00000569930.1:n.2386A>T
NM_000548.3:c.5271A>T , LRG_487t1:c.5271A>T	NP_000539.2:p.Glu1757Asp
NM_001077183.1:c.5070A>T	NP_001070651.1:p.Glu1690Asp
NM_001114382.1:c.5202A>T	NP_001107854.1:p.Glu1734Asp
XM_005255529.3:c.5142A>T	XP_005255586.2:p.Glu1714Asp
XM_005255531.3:c.5073A>T	XP_005255588.2:p.Glu1691Asp
XM_011522636.1:c.5325A>T	XP_011520938.1:p.Glu1775Asp
XM_011522637.1:c.5322A>T	XP_011520939.1:p.Glu1774Asp
XM_011522638.1:c.5214A>T	XP_011520940.1:p.Glu1738Asp
XM_011522639.1:c.5196A>T	XP_011520941.1:p.Glu1732Asp
XM_011522640.1:c.5193A>T	XP_011520942.1:p.Glu1731Asp
XM_011522641.1:c.4962A>T	XP_011520943.1:p.Glu1654Asp
NM_000548.4:c.5271A>T	NP_000539.2:p.Glu1757Asp
NM_001077183.2:c.5070A>T	NP_001070651.1:p.Glu1690Asp
NM_001114382.2:c.5202A>T	NP_001107854.1:p.Glu1734Asp
NM_001318827.1:c.4962A>T	NP_001305756.1:p.Glu1654Asp
NM_001318829.1:c.4926A>T	NP_001305758.1:p.Glu1642Asp
NM_001318831.1:c.4539A>T	NP_001305760.1:p.Glu1513Asp
NM_001318832.1:c.5103A>T	NP_001305761.1:p.Glu1701Asp
NM_001363528.1:c.5073A>T	NP_001350457.1:p.Glu1691Asp
NM_021055.2:c.5142A>T	NP_066399.2:p.Glu1714Asp
XM_005255531.4:c.5073A>T	XP_005255588.2:p.Glu1691Asp
XM_011522636.2:c.5325A>T	XP_011520938.1:p.Glu1775Asp
XM_011522637.2:c.5322A>T	XP_011520939.1:p.Glu1774Asp
XM_011522638.2:c.5487A>T	XP_011520940.2:p.Glu1829Asp
XM_011522639.2:c.5196A>T	XP_011520941.1:p.Glu1732Asp
XM_011522640.2:c.5193A>T	XP_011520942.1:p.Glu1731Asp
XM_017023615.1:c.5268A>T	XP_016879104.1:p.Glu1756Asp
XM_017023616.1:c.5139A>T	XP_016879105.1:p.Glu1713Asp
XM_017023617.1:c.5235A>T	XP_016879106.1:p.Glu1745Asp
XM_017023618.1:c.3981A>T	XP_016879107.1:p.Glu1327Asp
XM_024450413.1:c.5157A>T	XP_024306181.1:p.Glu1719Asp
NM_000548.5:c.5271A>T MANE Select	NP_000539.2:p.Glu1757Asp
NM_001370404.1:c.5139A>T	NP_001357333.1:p.Glu1713Asp
NM_001370405.1:c.5130A>T	NP_001357334.1:p.Glu1710Asp
NM_001077183.3:c.5070A>T	NP_001070651.1:p.Glu1690Asp
NM_001114382.3:c.5202A>T	NP_001107854.1:p.Glu1734Asp
NM_001318827.2:c.4962A>T	NP_001305756.1:p.Glu1654Asp
NM_001318829.2:c.4926A>T	NP_001305758.1:p.Glu1642Asp
NM_001318831.2:c.4539A>T	NP_001305760.1:p.Glu1513Asp
NM_001318832.2:c.5103A>T	NP_001305761.1:p.Glu1701Asp
NM_001363528.2:c.5073A>T	NP_001350457.1:p.Glu1691Asp
NM_021055.3:c.5142A>T	NP_066399.2:p.Glu1714Asp