Canonical Allele Identifier: CA394314606

Gene: TSC2

Linked Data

• ClinVar Variation Id: 3232189
• ClinVar RCV Id: RCV004520872
• gnomAD v4: 16-2088302-C-T
• MyVariant Identifiers: chr16:g.2138303C>T (hg19) ; chr16:g.2088302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088302C>T , CM000678.2:g.2088302C>T	GRCh38
NC_000016.9:g.2138303C>T , CM000678.1:g.2138303C>T	GRCh37
NC_000016.8:g.2078304C>T	NCBI36
NG_005895.1:g.43997C>T , LRG_487:g.43997C>T
NG_008617.1:g.54919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3585C>T	ENSP00000455997.2:n.*3585C>T
ENST00000642206.2:c.5083C>T	ENSP00000495146.2:p.His1695Tyr
ENST00000642365.2:c.5233C>T	ENSP00000495459.2:p.His1745Tyr
ENST00000644417.2:c.*5749C>T	ENSP00000493912.2:n.*5749C>T
ENST00000646464.2:c.*7985C>T	ENSP00000496610.2:n.*7985C>T
ENST00000219476.9:c.5236C>T MANE Select	ENSP00000219476.3:p.His1746Tyr
ENST00000350773.9:c.5167C>T	ENSP00000344383.4:p.His1723Tyr
ENST00000401874.7:c.5035C>T	ENSP00000384468.2:p.His1679Tyr
ENST00000568454.6:c.5068C>T	ENSP00000454487.1:p.His1690Tyr
ENST00000569110.2:c.1459C>T
ENST00000569930.2:n.3118C>T
ENST00000642365.1:c.3890C>T
ENST00000642561.1:c.5095C>T	ENSP00000495099.1:p.His1699Tyr
ENST00000642791.1:n.833C>T
ENST00000642797.1:c.5038C>T	ENSP00000493846.1:p.His1680Tyr
ENST00000642936.1:c.5104C>T	ENSP00000494514.1:p.His1702Tyr
ENST00000643088.1:c.5029C>T	ENSP00000494747.1:p.His1677Tyr
ENST00000643426.1:n.2884C>T
ENST00000643946.1:c.5161C>T	ENSP00000495927.1:p.His1721Tyr
ENST00000644043.1:c.5107C>T	ENSP00000496262.1:p.His1703Tyr
ENST00000644329.1:c.5122C>T	ENSP00000496611.1:p.His1708Tyr
ENST00000644335.1:c.5032C>T	ENSP00000496317.1:p.His1678Tyr
ENST00000644399.1:c.5157C>T
ENST00000645024.1:n.3320C>T
ENST00000646388.1:c.5230C>T	ENSP00000495921.1:p.His1744Tyr
ENST00000646634.1:n.4051C>T
ENST00000646674.1:n.2488C>T
ENST00000647042.1:n.2459C>T
ENST00000647180.1:n.2349C>T
ENST00000219476.7:c.5236C>T	ENSP00000219476.3:p.His1746Tyr
ENST00000350773.8:c.5167C>T	ENSP00000344383.4:p.His1723Tyr
ENST00000382538.10:c.4891C>T	ENSP00000371978.6:p.His1631Tyr
ENST00000401874.6:c.5035C>T	ENSP00000384468.2:p.His1679Tyr
ENST00000439117.6:c.*4403C>T	ENSP00000406980.2:n.*4403C>T
ENST00000439673.6:c.4927C>T	ENSP00000399232.2:p.His1643Tyr
ENST00000497886.5:n.2959C>T
ENST00000568454.5:c.5068C>T	ENSP00000454487.1:p.His1690Tyr
ENST00000569110.1:c.1418C>T
ENST00000569930.1:n.2351C>T
NM_000548.3:c.5236C>T , LRG_487t1:c.5236C>T	NP_000539.2:p.His1746Tyr
NM_001077183.1:c.5035C>T	NP_001070651.1:p.His1679Tyr
NM_001114382.1:c.5167C>T	NP_001107854.1:p.His1723Tyr
XM_005255529.3:c.5107C>T	XP_005255586.2:p.His1703Tyr
XM_005255531.3:c.5038C>T	XP_005255588.2:p.His1680Tyr
XM_011522636.1:c.5290C>T	XP_011520938.1:p.His1764Tyr
XM_011522637.1:c.5287C>T	XP_011520939.1:p.His1763Tyr
XM_011522638.1:c.5179C>T	XP_011520940.1:p.His1727Tyr
XM_011522639.1:c.5161C>T	XP_011520941.1:p.His1721Tyr
XM_011522640.1:c.5158C>T	XP_011520942.1:p.His1720Tyr
XM_011522641.1:c.4927C>T	XP_011520943.1:p.His1643Tyr
NM_000548.4:c.5236C>T	NP_000539.2:p.His1746Tyr
NM_001077183.2:c.5035C>T	NP_001070651.1:p.His1679Tyr
NM_001114382.2:c.5167C>T	NP_001107854.1:p.His1723Tyr
NM_001318827.1:c.4927C>T	NP_001305756.1:p.His1643Tyr
NM_001318829.1:c.4891C>T	NP_001305758.1:p.His1631Tyr
NM_001318831.1:c.4504C>T	NP_001305760.1:p.His1502Tyr
NM_001318832.1:c.5068C>T	NP_001305761.1:p.His1690Tyr
NM_001363528.1:c.5038C>T	NP_001350457.1:p.His1680Tyr
NM_021055.2:c.5107C>T	NP_066399.2:p.His1703Tyr
XM_005255531.4:c.5038C>T	XP_005255588.2:p.His1680Tyr
XM_011522636.2:c.5290C>T	XP_011520938.1:p.His1764Tyr
XM_011522637.2:c.5287C>T	XP_011520939.1:p.His1763Tyr
XM_011522638.2:c.5452C>T	XP_011520940.2:p.His1818Tyr
XM_011522639.2:c.5161C>T	XP_011520941.1:p.His1721Tyr
XM_011522640.2:c.5158C>T	XP_011520942.1:p.His1720Tyr
XM_017023615.1:c.5233C>T	XP_016879104.1:p.His1745Tyr
XM_017023616.1:c.5104C>T	XP_016879105.1:p.His1702Tyr
XM_017023617.1:c.5200C>T	XP_016879106.1:p.His1734Tyr
XM_017023618.1:c.3946C>T	XP_016879107.1:p.His1316Tyr
XM_024450413.1:c.5122C>T	XP_024306181.1:p.His1708Tyr
NM_000548.5:c.5236C>T MANE Select	NP_000539.2:p.His1746Tyr
NM_001370404.1:c.5104C>T	NP_001357333.1:p.His1702Tyr
NM_001370405.1:c.5095C>T	NP_001357334.1:p.His1699Tyr
NM_001077183.3:c.5035C>T	NP_001070651.1:p.His1679Tyr
NM_001114382.3:c.5167C>T	NP_001107854.1:p.His1723Tyr
NM_001318827.2:c.4927C>T	NP_001305756.1:p.His1643Tyr
NM_001318829.2:c.4891C>T	NP_001305758.1:p.His1631Tyr
NM_001318831.2:c.4504C>T	NP_001305760.1:p.His1502Tyr
NM_001318832.2:c.5068C>T	NP_001305761.1:p.His1690Tyr
NM_001363528.2:c.5038C>T	NP_001350457.1:p.His1680Tyr
NM_021055.3:c.5107C>T	NP_066399.2:p.His1703Tyr