Canonical Allele Identifier: CA394315526

Gene: TSC2

Linked Data

• dbSNP Id: rs1239821498
• MyVariant Identifiers: chr16:g.2138510A>T (hg19) ; chr16:g.2088509A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088509A>T , CM000678.2:g.2088509A>T	GRCh38
NC_000016.9:g.2138510A>T , CM000678.1:g.2138510A>T	GRCh37
NC_000016.8:g.2078511A>T	NCBI36
NG_005895.1:g.44204A>T , LRG_487:g.44204A>T
NG_008617.1:g.54712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3672A>T	ENSP00000455997.2:n.*3672A>T
ENST00000642206.2:c.5170A>T	ENSP00000495146.2:p.Lys1724Ter
ENST00000642365.2:c.5320A>T	ENSP00000495459.2:p.Lys1774Ter
ENST00000644417.2:c.*5836A>T	ENSP00000493912.2:n.*5836A>T
ENST00000646464.2:c.*8072A>T	ENSP00000496610.2:n.*8072A>T
ENST00000219476.9:c.5323A>T MANE Select	ENSP00000219476.3:p.Lys1775Ter
ENST00000350773.9:c.5254A>T	ENSP00000344383.4:p.Lys1752Ter
ENST00000401874.7:c.5122A>T	ENSP00000384468.2:p.Lys1708Ter
ENST00000568454.6:c.5155A>T	ENSP00000454487.1:p.Lys1719Ter
ENST00000569110.2:c.1546A>T
ENST00000569930.2:n.3205A>T
ENST00000642365.1:c.3977A>T
ENST00000642561.1:c.5182A>T	ENSP00000495099.1:p.Lys1728Ter
ENST00000642791.1:n.920A>T
ENST00000642797.1:c.5125A>T	ENSP00000493846.1:p.Lys1709Ter
ENST00000642936.1:c.5191A>T	ENSP00000494514.1:p.Lys1731Ter
ENST00000643088.1:c.5116A>T	ENSP00000494747.1:p.Lys1706Ter
ENST00000643426.1:n.2971A>T
ENST00000643946.1:c.5248A>T	ENSP00000495927.1:p.Lys1750Ter
ENST00000644043.1:c.5194A>T	ENSP00000496262.1:p.Lys1732Ter
ENST00000644329.1:c.5209A>T	ENSP00000496611.1:p.Lys1737Ter
ENST00000644335.1:c.5119A>T	ENSP00000496317.1:p.Lys1707Ter
ENST00000644399.1:c.5244A>T
ENST00000645024.1:n.3407A>T
ENST00000646388.1:c.5317A>T	ENSP00000495921.1:p.Lys1773Ter
ENST00000646634.1:n.4138A>T
ENST00000646674.1:n.2575A>T
ENST00000647042.1:n.2546A>T
ENST00000647180.1:n.2436A>T
ENST00000219476.7:c.5323A>T	ENSP00000219476.3:p.Lys1775Ter
ENST00000350773.8:c.5254A>T	ENSP00000344383.4:p.Lys1752Ter
ENST00000382538.10:c.4978A>T	ENSP00000371978.6:p.Lys1660Ter
ENST00000401874.6:c.5122A>T	ENSP00000384468.2:p.Lys1708Ter
ENST00000439117.6:c.*4490A>T	ENSP00000406980.2:n.*4490A>T
ENST00000439673.6:c.5014A>T	ENSP00000399232.2:p.Lys1672Ter
ENST00000497886.5:n.3046A>T
ENST00000568454.5:c.5155A>T	ENSP00000454487.1:p.Lys1719Ter
ENST00000569110.1:c.1505A>T
ENST00000569930.1:n.2438A>T
NM_000548.3:c.5323A>T , LRG_487t1:c.5323A>T	NP_000539.2:p.Lys1775Ter
NM_001077183.1:c.5122A>T	NP_001070651.1:p.Lys1708Ter
NM_001114382.1:c.5254A>T	NP_001107854.1:p.Lys1752Ter
XM_005255529.3:c.5194A>T	XP_005255586.2:p.Lys1732Ter
XM_005255531.3:c.5125A>T	XP_005255588.2:p.Lys1709Ter
XM_011522636.1:c.5377A>T	XP_011520938.1:p.Lys1793Ter
XM_011522637.1:c.5374A>T	XP_011520939.1:p.Lys1792Ter
XM_011522638.1:c.5266A>T	XP_011520940.1:p.Lys1756Ter
XM_011522639.1:c.5248A>T	XP_011520941.1:p.Lys1750Ter
XM_011522640.1:c.5245A>T	XP_011520942.1:p.Lys1749Ter
XM_011522641.1:c.5014A>T	XP_011520943.1:p.Lys1672Ter
NM_000548.4:c.5323A>T	NP_000539.2:p.Lys1775Ter
NM_001077183.2:c.5122A>T	NP_001070651.1:p.Lys1708Ter
NM_001114382.2:c.5254A>T	NP_001107854.1:p.Lys1752Ter
NM_001318827.1:c.5014A>T	NP_001305756.1:p.Lys1672Ter
NM_001318829.1:c.4978A>T	NP_001305758.1:p.Lys1660Ter
NM_001318831.1:c.4591A>T	NP_001305760.1:p.Lys1531Ter
NM_001318832.1:c.5155A>T	NP_001305761.1:p.Lys1719Ter
NM_001363528.1:c.5125A>T	NP_001350457.1:p.Lys1709Ter
NM_021055.2:c.5194A>T	NP_066399.2:p.Lys1732Ter
XM_005255531.4:c.5125A>T	XP_005255588.2:p.Lys1709Ter
XM_011522636.2:c.5377A>T	XP_011520938.1:p.Lys1793Ter
XM_011522637.2:c.5374A>T	XP_011520939.1:p.Lys1792Ter
XM_011522638.2:c.5539A>T	XP_011520940.2:p.Lys1847Ter
XM_011522639.2:c.5248A>T	XP_011520941.1:p.Lys1750Ter
XM_011522640.2:c.5245A>T	XP_011520942.1:p.Lys1749Ter
XM_017023615.1:c.5320A>T	XP_016879104.1:p.Lys1774Ter
XM_017023616.1:c.5191A>T	XP_016879105.1:p.Lys1731Ter
XM_017023617.1:c.5287A>T	XP_016879106.1:p.Lys1763Ter
XM_017023618.1:c.4033A>T	XP_016879107.1:p.Lys1345Ter
XM_024450413.1:c.5209A>T	XP_024306181.1:p.Lys1737Ter
NM_000548.5:c.5323A>T MANE Select	NP_000539.2:p.Lys1775Ter
NM_001370404.1:c.5191A>T	NP_001357333.1:p.Lys1731Ter
NM_001370405.1:c.5182A>T	NP_001357334.1:p.Lys1728Ter
NM_001077183.3:c.5122A>T	NP_001070651.1:p.Lys1708Ter
NM_001114382.3:c.5254A>T	NP_001107854.1:p.Lys1752Ter
NM_001318827.2:c.5014A>T	NP_001305756.1:p.Lys1672Ter
NM_001318829.2:c.4978A>T	NP_001305758.1:p.Lys1660Ter
NM_001318831.2:c.4591A>T	NP_001305760.1:p.Lys1531Ter
NM_001318832.2:c.5155A>T	NP_001305761.1:p.Lys1719Ter
NM_001363528.2:c.5125A>T	NP_001350457.1:p.Lys1709Ter
NM_021055.3:c.5194A>T	NP_066399.2:p.Lys1732Ter