Canonical Allele Identifier: CA394306592

Gene: TSC2

Linked Data

• ClinVar Variation Id: 429805
• ClinVar RCV Id: RCV000494472 ; RCV000689112
• dbSNP Id: rs1131691602
• MyVariant Identifiers: chr16:g.2104318A>T (hg19) ; chr16:g.2054317A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2054317A>T , CM000678.2:g.2054317A>T	GRCh38
NC_000016.9:g.2104318A>T , CM000678.1:g.2104318A>T	GRCh37
NC_000016.8:g.2044319A>T	NCBI36
NG_005895.1:g.10012A>T , LRG_487:g.10012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.358A>T	ENSP00000455997.2:p.Arg120Ter
ENST00000642206.2:c.403A>T	ENSP00000495146.2:p.Arg135Ter
ENST00000642365.2:c.358A>T	ENSP00000495459.2:p.Arg120Ter
ENST00000644417.2:c.358A>T	ENSP00000493912.2:p.Arg120Ter
ENST00000646464.2:c.226-1663A>T	ENSP00000496610.2:n.226-1663A>T
ENST00000219476.9:c.358A>T MANE Select	ENSP00000219476.3:p.Arg120Ter
ENST00000350773.9:c.358A>T	ENSP00000344383.4:p.Arg120Ter
ENST00000401874.7:c.358A>T	ENSP00000384468.2:p.Arg120Ter
ENST00000432909.3:c.132A>T
ENST00000461648.3:n.1311A>T
ENST00000568454.6:c.391A>T	ENSP00000454487.1:p.Arg131Ter
ENST00000568692.2:n.1081A>T
ENST00000642561.1:c.358A>T	ENSP00000495099.1:p.Arg120Ter
ENST00000642797.1:c.358A>T	ENSP00000493846.1:p.Arg120Ter
ENST00000642812.1:n.415A>T
ENST00000642936.1:c.358A>T	ENSP00000494514.1:p.Arg120Ter
ENST00000643088.1:c.358A>T	ENSP00000494747.1:p.Arg120Ter
ENST00000643120.1:n.399A>T
ENST00000643149.1:n.1311A>T
ENST00000643298.1:c.358A>T	ENSP00000494393.1:p.Arg120Ter
ENST00000643745.1:c.358A>T	ENSP00000495948.1:p.Arg120Ter
ENST00000643946.1:c.358A>T	ENSP00000495927.1:p.Arg120Ter
ENST00000644043.1:c.358A>T	ENSP00000496262.1:p.Arg120Ter
ENST00000644135.1:c.358A>T	ENSP00000495644.1:p.Arg120Ter
ENST00000644222.1:n.445A>T
ENST00000644329.1:c.358A>T	ENSP00000496611.1:p.Arg120Ter
ENST00000644335.1:c.358A>T	ENSP00000496317.1:p.Arg120Ter
ENST00000644399.1:c.351A>T
ENST00000644417.1:c.73A>T	ENSP00000493912.1:p.Arg25Ter
ENST00000644665.1:n.475A>T
ENST00000645591.1:n.1329A>T
ENST00000646388.1:c.358A>T	ENSP00000495921.1:p.Arg120Ter
ENST00000646823.1:n.746A>T
ENST00000647234.1:n.1076A>T
ENST00000647242.1:n.1026A>T
ENST00000219476.7:c.358A>T	ENSP00000219476.3:p.Arg120Ter
ENST00000350773.8:c.358A>T	ENSP00000344383.4:p.Arg120Ter
ENST00000382538.10:c.211A>T	ENSP00000371978.6:p.Arg71Ter
ENST00000401874.6:c.358A>T	ENSP00000384468.2:p.Arg120Ter
ENST00000432909.2:c.132A>T
ENST00000439117.6:c.226-1879A>T	ENSP00000406980.2:n.226-1879A>T
ENST00000439673.6:c.247A>T	ENSP00000399232.2:p.Arg83Ter
ENST00000568454.5:c.391A>T	ENSP00000454487.1:p.Arg131Ter
ENST00000568692.1:n.22A>T
NM_000548.3:c.358A>T , LRG_487t1:c.358A>T	NP_000539.2:p.Arg120Ter
NM_001077183.1:c.358A>T	NP_001070651.1:p.Arg120Ter
NM_001114382.1:c.358A>T	NP_001107854.1:p.Arg120Ter
XM_005255529.3:c.358A>T	XP_005255586.2:p.Arg120Ter
XM_005255531.3:c.358A>T	XP_005255588.2:p.Arg120Ter
XM_011522636.1:c.358A>T	XP_011520938.1:p.Arg120Ter
XM_011522637.1:c.358A>T	XP_011520939.1:p.Arg120Ter
XM_011522638.1:c.247A>T	XP_011520940.1:p.Arg83Ter
XM_011522639.1:c.358A>T	XP_011520941.1:p.Arg120Ter
XM_011522640.1:c.358A>T	XP_011520942.1:p.Arg120Ter
XM_011522641.1:c.247A>T	XP_011520943.1:p.Arg83Ter
NM_000548.4:c.358A>T	NP_000539.2:p.Arg120Ter
NM_001077183.2:c.358A>T	NP_001070651.1:p.Arg120Ter
NM_001114382.2:c.358A>T	NP_001107854.1:p.Arg120Ter
NM_001318827.1:c.247A>T	NP_001305756.1:p.Arg83Ter
NM_001318829.1:c.211A>T	NP_001305758.1:p.Arg71Ter
NM_001318831.1:c.-1-1879A>T	NP_001305760.1:n.-1-1879A>T
NM_001318832.1:c.391A>T	NP_001305761.1:p.Arg131Ter
NM_001363528.1:c.358A>T	NP_001350457.1:p.Arg120Ter
NM_021055.2:c.358A>T	NP_066399.2:p.Arg120Ter
XM_005255531.4:c.358A>T	XP_005255588.2:p.Arg120Ter
XM_011522636.2:c.358A>T	XP_011520938.1:p.Arg120Ter
XM_011522637.2:c.358A>T	XP_011520939.1:p.Arg120Ter
XM_011522638.2:c.520A>T	XP_011520940.2:p.Arg174Ter
XM_011522639.2:c.358A>T	XP_011520941.1:p.Arg120Ter
XM_011522640.2:c.358A>T	XP_011520942.1:p.Arg120Ter
XM_017023615.1:c.358A>T	XP_016879104.1:p.Arg120Ter
XM_017023616.1:c.358A>T	XP_016879105.1:p.Arg120Ter
XM_017023617.1:c.520A>T	XP_016879106.1:p.Arg174Ter
XM_017023618.1:c.-1074A>T	XP_016879107.1:n.-1074A>T
XM_024450413.1:c.358A>T	XP_024306181.1:p.Arg120Ter
NM_000548.5:c.358A>T MANE Select	NP_000539.2:p.Arg120Ter
NM_001370404.1:c.358A>T	NP_001357333.1:p.Arg120Ter
NM_001370405.1:c.358A>T	NP_001357334.1:p.Arg120Ter
NM_001077183.3:c.358A>T	NP_001070651.1:p.Arg120Ter
NM_001114382.3:c.358A>T	NP_001107854.1:p.Arg120Ter
NM_001318827.2:c.247A>T	NP_001305756.1:p.Arg83Ter
NM_001318829.2:c.211A>T	NP_001305758.1:p.Arg71Ter
NM_001318831.2:c.-1-1879A>T	NP_001305760.1:n.-1-1879A>T
NM_001318832.2:c.391A>T	NP_001305761.1:p.Arg131Ter
NM_001363528.2:c.358A>T	NP_001350457.1:p.Arg120Ter
NM_021055.3:c.358A>T	NP_066399.2:p.Arg120Ter