Canonical Allele Identifier: CA022725

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49380
• ClinVar RCV Id: RCV000042640 ; RCV000201082
• dbSNP Id: rs45517118
• MyVariant Identifiers: chr16:g.2106243G>T (hg19) ; chr16:g.2056242G>T (hg38)
• PubMed: PMID:17304050

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2056242G>T , CM000678.2:g.2056242G>T	GRCh38
NC_000016.9:g.2106243G>T , CM000678.1:g.2106243G>T	GRCh37
NC_000016.8:g.2046244G>T	NCBI36
NG_005895.1:g.11937G>T , LRG_487:g.11937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.646G>T	ENSP00000455997.2:p.Glu216Ter
ENST00000642206.2:c.691G>T	ENSP00000495146.2:p.Glu231Ter
ENST00000642365.2:c.646G>T	ENSP00000495459.2:p.Glu216Ter
ENST00000644417.2:c.*83G>T	ENSP00000493912.2:n.*83G>T
ENST00000646464.2:c.*251G>T	ENSP00000496610.2:n.*251G>T
ENST00000219476.9:c.646G>T MANE Select	ENSP00000219476.3:p.Glu216Ter
ENST00000350773.9:c.646G>T	ENSP00000344383.4:p.Glu216Ter
ENST00000401874.7:c.646G>T	ENSP00000384468.2:p.Glu216Ter
ENST00000467949.2:n.98G>T
ENST00000568454.6:c.679G>T	ENSP00000454487.1:p.Glu227Ter
ENST00000642561.1:c.646G>T	ENSP00000495099.1:p.Glu216Ter
ENST00000642797.1:c.646G>T	ENSP00000493846.1:p.Glu216Ter
ENST00000642812.1:n.703G>T
ENST00000642936.1:c.646G>T	ENSP00000494514.1:p.Glu216Ter
ENST00000643088.1:c.646G>T	ENSP00000494747.1:p.Glu216Ter
ENST00000643149.1:n.1599G>T
ENST00000643298.1:c.*148G>T	ENSP00000494393.1:n.*148G>T
ENST00000643745.1:c.646G>T	ENSP00000495948.1:p.Glu216Ter
ENST00000643946.1:c.646G>T	ENSP00000495927.1:p.Glu216Ter
ENST00000644043.1:c.646G>T	ENSP00000496262.1:p.Glu216Ter
ENST00000644135.1:c.646G>T	ENSP00000495644.1:p.Glu216Ter
ENST00000644222.1:n.733G>T
ENST00000644329.1:c.646G>T	ENSP00000496611.1:p.Glu216Ter
ENST00000644335.1:c.646G>T	ENSP00000496317.1:p.Glu216Ter
ENST00000644399.1:c.639G>T
ENST00000644417.1:c.344G>T	ENSP00000493912.1:n.344G>T
ENST00000644665.1:n.763G>T
ENST00000645591.1:n.1617G>T
ENST00000646388.1:c.646G>T	ENSP00000495921.1:p.Glu216Ter
ENST00000646823.1:n.1034G>T
ENST00000647234.1:n.1347G>T
ENST00000647242.1:n.1314G>T
ENST00000219476.7:c.646G>T	ENSP00000219476.3:p.Glu216Ter
ENST00000350773.8:c.646G>T	ENSP00000344383.4:p.Glu216Ter
ENST00000382538.10:c.499G>T	ENSP00000371978.6:p.Glu167Ter
ENST00000401874.6:c.646G>T	ENSP00000384468.2:p.Glu216Ter
ENST00000439117.6:c.272G>T	ENSP00000406980.2:p.Arg91Ile
ENST00000439673.6:c.535G>T	ENSP00000399232.2:p.Glu179Ter
ENST00000467949.1:c.82G>T	ENSP00000454997.1:p.Glu28Ter
ENST00000568454.5:c.679G>T	ENSP00000454487.1:p.Glu227Ter
NM_000548.3:c.646G>T , LRG_487t1:c.646G>T	NP_000539.2:p.Glu216Ter
NM_001077183.1:c.646G>T	NP_001070651.1:p.Glu216Ter
NM_001114382.1:c.646G>T	NP_001107854.1:p.Glu216Ter
XM_005255529.3:c.646G>T	XP_005255586.2:p.Glu216Ter
XM_005255531.3:c.646G>T	XP_005255588.2:p.Glu216Ter
XM_011522636.1:c.646G>T	XP_011520938.1:p.Glu216Ter
XM_011522637.1:c.646G>T	XP_011520939.1:p.Glu216Ter
XM_011522638.1:c.535G>T	XP_011520940.1:p.Glu179Ter
XM_011522639.1:c.646G>T	XP_011520941.1:p.Glu216Ter
XM_011522640.1:c.646G>T	XP_011520942.1:p.Glu216Ter
XM_011522641.1:c.535G>T	XP_011520943.1:p.Glu179Ter
NM_000548.4:c.646G>T	NP_000539.2:p.Glu216Ter
NM_001077183.2:c.646G>T	NP_001070651.1:p.Glu216Ter
NM_001114382.2:c.646G>T	NP_001107854.1:p.Glu216Ter
NM_001318827.1:c.535G>T	NP_001305756.1:p.Glu179Ter
NM_001318829.1:c.499G>T	NP_001305758.1:p.Glu167Ter
NM_001318831.1:c.46G>T	NP_001305760.1:p.Glu16Ter
NM_001318832.1:c.679G>T	NP_001305761.1:p.Glu227Ter
NM_001363528.1:c.646G>T	NP_001350457.1:p.Glu216Ter
NM_021055.2:c.646G>T	NP_066399.2:p.Glu216Ter
XM_005255531.4:c.646G>T	XP_005255588.2:p.Glu216Ter
XM_011522636.2:c.646G>T	XP_011520938.1:p.Glu216Ter
XM_011522637.2:c.646G>T	XP_011520939.1:p.Glu216Ter
XM_011522638.2:c.808G>T	XP_011520940.2:p.Glu270Ter
XM_011522639.2:c.646G>T	XP_011520941.1:p.Glu216Ter
XM_011522640.2:c.646G>T	XP_011520942.1:p.Glu216Ter
XM_017023615.1:c.646G>T	XP_016879104.1:p.Glu216Ter
XM_017023616.1:c.646G>T	XP_016879105.1:p.Glu216Ter
XM_017023617.1:c.808G>T	XP_016879106.1:p.Glu270Ter
XM_017023618.1:c.-786G>T	XP_016879107.1:n.-786G>T
XM_024450413.1:c.646G>T	XP_024306181.1:p.Glu216Ter
NM_000548.5:c.646G>T MANE Select	NP_000539.2:p.Glu216Ter
NM_001370404.1:c.646G>T	NP_001357333.1:p.Glu216Ter
NM_001370405.1:c.646G>T	NP_001357334.1:p.Glu216Ter
NM_001077183.3:c.646G>T	NP_001070651.1:p.Glu216Ter
NM_001114382.3:c.646G>T	NP_001107854.1:p.Glu216Ter
NM_001318827.2:c.535G>T	NP_001305756.1:p.Glu179Ter
NM_001318829.2:c.499G>T	NP_001305758.1:p.Glu167Ter
NM_001318831.2:c.46G>T	NP_001305760.1:p.Glu16Ter
NM_001318832.2:c.679G>T	NP_001305761.1:p.Glu227Ter
NM_001363528.2:c.646G>T	NP_001350457.1:p.Glu216Ter
NM_021055.3:c.646G>T	NP_066399.2:p.Glu216Ter