Canonical Allele Identifier: CA394314253

Gene: TSC2

Linked Data

• dbSNP Id: rs1190875881
• MyVariant Identifiers: chr16:g.2138265C>T (hg19) ; chr16:g.2088264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088264C>T , CM000678.2:g.2088264C>T	GRCh38
NC_000016.9:g.2138265C>T , CM000678.1:g.2138265C>T	GRCh37
NC_000016.8:g.2078266C>T	NCBI36
NG_005895.1:g.43959C>T , LRG_487:g.43959C>T
NG_008617.1:g.54957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3547C>T	ENSP00000455997.2:n.*3547C>T
ENST00000642206.2:c.5045C>T	ENSP00000495146.2:p.Thr1682Ile
ENST00000642365.2:c.5195C>T	ENSP00000495459.2:p.Thr1732Ile
ENST00000644417.2:c.*5711C>T	ENSP00000493912.2:n.*5711C>T
ENST00000646464.2:c.*7947C>T	ENSP00000496610.2:n.*7947C>T
ENST00000219476.9:c.5198C>T MANE Select	ENSP00000219476.3:p.Thr1733Ile
ENST00000350773.9:c.5129C>T	ENSP00000344383.4:p.Thr1710Ile
ENST00000401874.7:c.4997C>T	ENSP00000384468.2:p.Thr1666Ile
ENST00000568454.6:c.5030C>T	ENSP00000454487.1:p.Thr1677Ile
ENST00000569110.2:c.1421C>T
ENST00000569930.2:n.3080C>T
ENST00000642365.1:c.3852C>T
ENST00000642561.1:c.5057C>T	ENSP00000495099.1:p.Thr1686Ile
ENST00000642791.1:n.795C>T
ENST00000642797.1:c.5000C>T	ENSP00000493846.1:p.Thr1667Ile
ENST00000642936.1:c.5066C>T	ENSP00000494514.1:p.Thr1689Ile
ENST00000643088.1:c.4991C>T	ENSP00000494747.1:p.Thr1664Ile
ENST00000643426.1:n.2846C>T
ENST00000643946.1:c.5123C>T	ENSP00000495927.1:p.Thr1708Ile
ENST00000644043.1:c.5069C>T	ENSP00000496262.1:p.Thr1690Ile
ENST00000644329.1:c.5084C>T	ENSP00000496611.1:p.Thr1695Ile
ENST00000644335.1:c.4994C>T	ENSP00000496317.1:p.Thr1665Ile
ENST00000644399.1:c.5119C>T
ENST00000645024.1:n.3282C>T
ENST00000646388.1:c.5192C>T	ENSP00000495921.1:p.Thr1731Ile
ENST00000646634.1:n.4013C>T
ENST00000646674.1:n.2450C>T
ENST00000647042.1:n.2421C>T
ENST00000647180.1:n.2311C>T
ENST00000219476.7:c.5198C>T	ENSP00000219476.3:p.Thr1733Ile
ENST00000350773.8:c.5129C>T	ENSP00000344383.4:p.Thr1710Ile
ENST00000382538.10:c.4853C>T	ENSP00000371978.6:p.Thr1618Ile
ENST00000401874.6:c.4997C>T	ENSP00000384468.2:p.Thr1666Ile
ENST00000439117.6:c.*4365C>T	ENSP00000406980.2:n.*4365C>T
ENST00000439673.6:c.4889C>T	ENSP00000399232.2:p.Thr1630Ile
ENST00000497886.5:n.2921C>T
ENST00000568454.5:c.5030C>T	ENSP00000454487.1:p.Thr1677Ile
ENST00000569110.1:c.1380C>T
ENST00000569930.1:n.2313C>T
NM_000548.3:c.5198C>T , LRG_487t1:c.5198C>T	NP_000539.2:p.Thr1733Ile
NM_001077183.1:c.4997C>T	NP_001070651.1:p.Thr1666Ile
NM_001114382.1:c.5129C>T	NP_001107854.1:p.Thr1710Ile
XM_005255529.3:c.5069C>T	XP_005255586.2:p.Thr1690Ile
XM_005255531.3:c.5000C>T	XP_005255588.2:p.Thr1667Ile
XM_011522636.1:c.5252C>T	XP_011520938.1:p.Thr1751Ile
XM_011522637.1:c.5249C>T	XP_011520939.1:p.Thr1750Ile
XM_011522638.1:c.5141C>T	XP_011520940.1:p.Thr1714Ile
XM_011522639.1:c.5123C>T	XP_011520941.1:p.Thr1708Ile
XM_011522640.1:c.5120C>T	XP_011520942.1:p.Thr1707Ile
XM_011522641.1:c.4889C>T	XP_011520943.1:p.Thr1630Ile
NM_000548.4:c.5198C>T	NP_000539.2:p.Thr1733Ile
NM_001077183.2:c.4997C>T	NP_001070651.1:p.Thr1666Ile
NM_001114382.2:c.5129C>T	NP_001107854.1:p.Thr1710Ile
NM_001318827.1:c.4889C>T	NP_001305756.1:p.Thr1630Ile
NM_001318829.1:c.4853C>T	NP_001305758.1:p.Thr1618Ile
NM_001318831.1:c.4466C>T	NP_001305760.1:p.Thr1489Ile
NM_001318832.1:c.5030C>T	NP_001305761.1:p.Thr1677Ile
NM_001363528.1:c.5000C>T	NP_001350457.1:p.Thr1667Ile
NM_021055.2:c.5069C>T	NP_066399.2:p.Thr1690Ile
XM_005255531.4:c.5000C>T	XP_005255588.2:p.Thr1667Ile
XM_011522636.2:c.5252C>T	XP_011520938.1:p.Thr1751Ile
XM_011522637.2:c.5249C>T	XP_011520939.1:p.Thr1750Ile
XM_011522638.2:c.5414C>T	XP_011520940.2:p.Thr1805Ile
XM_011522639.2:c.5123C>T	XP_011520941.1:p.Thr1708Ile
XM_011522640.2:c.5120C>T	XP_011520942.1:p.Thr1707Ile
XM_017023615.1:c.5195C>T	XP_016879104.1:p.Thr1732Ile
XM_017023616.1:c.5066C>T	XP_016879105.1:p.Thr1689Ile
XM_017023617.1:c.5162C>T	XP_016879106.1:p.Thr1721Ile
XM_017023618.1:c.3908C>T	XP_016879107.1:p.Thr1303Ile
XM_024450413.1:c.5084C>T	XP_024306181.1:p.Thr1695Ile
NM_000548.5:c.5198C>T MANE Select	NP_000539.2:p.Thr1733Ile
NM_001370404.1:c.5066C>T	NP_001357333.1:p.Thr1689Ile
NM_001370405.1:c.5057C>T	NP_001357334.1:p.Thr1686Ile
NM_001077183.3:c.4997C>T	NP_001070651.1:p.Thr1666Ile
NM_001114382.3:c.5129C>T	NP_001107854.1:p.Thr1710Ile
NM_001318827.2:c.4889C>T	NP_001305756.1:p.Thr1630Ile
NM_001318829.2:c.4853C>T	NP_001305758.1:p.Thr1618Ile
NM_001318831.2:c.4466C>T	NP_001305760.1:p.Thr1489Ile
NM_001318832.2:c.5030C>T	NP_001305761.1:p.Thr1677Ile
NM_001363528.2:c.5000C>T	NP_001350457.1:p.Thr1667Ile
NM_021055.3:c.5069C>T	NP_066399.2:p.Thr1690Ile