Canonical Allele Identifier: CA493042908

Gene: TSC2

Linked Data

• dbSNP Id: rs2151438918
• MyVariant Identifiers: chr16:g.2129352G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079351G>A , CM000678.2:g.2079351G>A	GRCh38
NC_000016.9:g.2129352G>A , CM000678.1:g.2129352G>A	GRCh37
NC_000016.8:g.2069353G>A	NCBI36
NG_005895.1:g.35046G>A , LRG_487:g.35046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1625G>A	ENSP00000455997.2:n.*1625G>A
ENST00000642206.2:c.3123G>A	ENSP00000495146.2:p.Val1041=
ENST00000642365.2:c.3204G>A	ENSP00000495459.2:p.Val1068=
ENST00000644417.2:c.*3656G>A	ENSP00000493912.2:n.*3656G>A
ENST00000646464.2:c.*4129G>A	ENSP00000496610.2:n.*4129G>A
ENST00000219476.9:c.3207G>A MANE Select	ENSP00000219476.3:p.Val1069=
ENST00000350773.9:c.3207G>A	ENSP00000344383.4:p.Val1069=
ENST00000401874.7:c.3075G>A	ENSP00000384468.2:p.Val1025=
ENST00000471143.6:c.435G>A	ENSP00000458541.2:n.435G>A
ENST00000568454.6:c.3108G>A	ENSP00000454487.1:p.Val1036=
ENST00000642365.1:c.1861G>A
ENST00000642561.1:c.3078G>A	ENSP00000495099.1:p.Val1026=
ENST00000642797.1:c.3078G>A	ENSP00000493846.1:p.Val1026=
ENST00000642936.1:c.3075G>A	ENSP00000494514.1:p.Val1025=
ENST00000643088.1:c.3075G>A	ENSP00000494747.1:p.Val1025=
ENST00000643946.1:c.3207G>A	ENSP00000495927.1:p.Val1069=
ENST00000644043.1:c.3078G>A	ENSP00000496262.1:p.Val1026=
ENST00000644329.1:c.3075G>A	ENSP00000496611.1:p.Val1025=
ENST00000644335.1:c.3078G>A	ENSP00000496317.1:p.Val1026=
ENST00000644399.1:c.3197G>A
ENST00000644722.1:n.353G>A
ENST00000645024.1:n.1360G>A
ENST00000646388.1:c.3207G>A	ENSP00000495921.1:p.Val1069=
ENST00000646634.1:n.2091G>A
ENST00000647042.1:n.499G>A
ENST00000219476.7:c.3207G>A	ENSP00000219476.3:p.Val1069=
ENST00000350773.8:c.3207G>A	ENSP00000344383.4:p.Val1069=
ENST00000382538.10:c.2931G>A	ENSP00000371978.6:p.Val977=
ENST00000401874.6:c.3075G>A	ENSP00000384468.2:p.Val1025=
ENST00000439117.6:c.*2374G>A	ENSP00000406980.2:n.*2374G>A
ENST00000439673.6:c.2967G>A	ENSP00000399232.2:p.Val989=
ENST00000471143.5:c.433G>A
ENST00000483020.5:c.447G>A	ENSP00000460310.1:n.447G>A
ENST00000497886.5:n.1034G>A
ENST00000561695.1:n.432G>A
ENST00000568366.5:n.564G>A
ENST00000568454.5:c.3108G>A	ENSP00000454487.1:p.Val1036=
NM_000548.3:c.3207G>A , LRG_487t1:c.3207G>A	NP_000539.2:p.Val1069=
NM_001077183.1:c.3075G>A	NP_001070651.1:p.Val1025=
NM_001114382.1:c.3207G>A	NP_001107854.1:p.Val1069=
XM_005255529.3:c.3078G>A	XP_005255586.2:p.Val1026=
XM_005255531.3:c.3078G>A	XP_005255588.2:p.Val1026=
XM_011522636.1:c.3207G>A	XP_011520938.1:p.Val1069=
XM_011522637.1:c.3204G>A	XP_011520939.1:p.Val1068=
XM_011522638.1:c.3096G>A	XP_011520940.1:p.Val1032=
XM_011522639.1:c.3078G>A	XP_011520941.1:p.Val1026=
XM_011522640.1:c.3075G>A	XP_011520942.1:p.Val1025=
XM_011522641.1:c.2967G>A	XP_011520943.1:p.Val989=
NM_000548.4:c.3207G>A	NP_000539.2:p.Val1069=
NM_001077183.2:c.3075G>A	NP_001070651.1:p.Val1025=
NM_001114382.2:c.3207G>A	NP_001107854.1:p.Val1069=
NM_001318827.1:c.2967G>A	NP_001305756.1:p.Val989=
NM_001318829.1:c.2931G>A	NP_001305758.1:p.Val977=
NM_001318831.1:c.2475G>A	NP_001305760.1:p.Val825=
NM_001318832.1:c.3108G>A	NP_001305761.1:p.Val1036=
NM_001363528.1:c.3078G>A	NP_001350457.1:p.Val1026=
NM_021055.2:c.3078G>A	NP_066399.2:p.Val1026=
XM_005255531.4:c.3078G>A	XP_005255588.2:p.Val1026=
XM_011522636.2:c.3207G>A	XP_011520938.1:p.Val1069=
XM_011522637.2:c.3204G>A	XP_011520939.1:p.Val1068=
XM_011522638.2:c.3369G>A	XP_011520940.2:p.Val1123=
XM_011522639.2:c.3078G>A	XP_011520941.1:p.Val1026=
XM_011522640.2:c.3075G>A	XP_011520942.1:p.Val1025=
XM_017023615.1:c.3204G>A	XP_016879104.1:p.Val1068=
XM_017023616.1:c.3075G>A	XP_016879105.1:p.Val1025=
XM_017023617.1:c.3240G>A	XP_016879106.1:p.Val1080=
XM_017023618.1:c.1863G>A	XP_016879107.1:p.Val621=
XM_024450413.1:c.3075G>A	XP_024306181.1:p.Val1025=
NM_000548.5:c.3207G>A MANE Select	NP_000539.2:p.Val1069=
NM_001370404.1:c.3075G>A	NP_001357333.1:p.Val1025=
NM_001370405.1:c.3078G>A	NP_001357334.1:p.Val1026=
NM_001077183.3:c.3075G>A	NP_001070651.1:p.Val1025=
NM_001114382.3:c.3207G>A	NP_001107854.1:p.Val1069=
NM_001318827.2:c.2967G>A	NP_001305756.1:p.Val989=
NM_001318829.2:c.2931G>A	NP_001305758.1:p.Val977=
NM_001318831.2:c.2475G>A	NP_001305760.1:p.Val825=
NM_001318832.2:c.3108G>A	NP_001305761.1:p.Val1036=
NM_001363528.2:c.3078G>A	NP_001350457.1:p.Val1026=
NM_021055.3:c.3078G>A	NP_066399.2:p.Val1026=