Canonical Allele Identifier: CA2731833983

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2847399
• ClinVar RCV Id: RCV003628494
• dbSNP Id: rs2151438938

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079354_2079356del , CM000678.2:g.2079354_2079356del	GRCh38
NC_000016.9:g.2129355_2129357del , CM000678.1:g.2129355_2129357del	GRCh37
NC_000016.8:g.2069356_2069358del	NCBI36
NG_005895.1:g.35049_35051del , LRG_487:g.35049_35051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*1628_*1630del	ENSP00000455997.2:n.*1628_*1630del
ENST00000642206.2:c.3126_3128del	ENSP00000495146.2:p.Thr1043del
ENST00000642365.2:c.3207_3209del	ENSP00000495459.2:p.Thr1070del
ENST00000644417.2:c.*3659_*3661del	ENSP00000493912.2:n.*3659_*3661del
ENST00000646464.2:c.*4132_*4134del	ENSP00000496610.2:n.*4132_*4134del
ENST00000219476.9:c.3210_3212del MANE Select	ENSP00000219476.3:p.Thr1071del
ENST00000350773.9:c.3210_3212del	ENSP00000344383.4:p.Thr1071del
ENST00000401874.7:c.3078_3080del	ENSP00000384468.2:p.Thr1027del
ENST00000471143.6:c.438_440del	ENSP00000458541.2:n.438_440del
ENST00000568454.6:c.3111_3113del	ENSP00000454487.1:p.Thr1038del
ENST00000642365.1:c.1864_1866del
ENST00000642561.1:c.3081_3083del	ENSP00000495099.1:p.Thr1028del
ENST00000642797.1:c.3081_3083del	ENSP00000493846.1:p.Thr1028del
ENST00000642936.1:c.3078_3080del	ENSP00000494514.1:p.Thr1027del
ENST00000643088.1:c.3078_3080del	ENSP00000494747.1:p.Thr1027del
ENST00000643946.1:c.3210_3212del	ENSP00000495927.1:p.Thr1071del
ENST00000644043.1:c.3081_3083del	ENSP00000496262.1:p.Thr1028del
ENST00000644329.1:c.3078_3080del	ENSP00000496611.1:p.Thr1027del
ENST00000644335.1:c.3081_3083del	ENSP00000496317.1:p.Thr1028del
ENST00000644399.1:c.3200_3202del
ENST00000644722.1:n.356_358del
ENST00000645024.1:n.1363_1365del
ENST00000646388.1:c.3210_3212del	ENSP00000495921.1:p.Thr1071del
ENST00000646634.1:n.2094_2096del
ENST00000647042.1:n.502_504del
ENST00000219476.7:c.3210_3212del	ENSP00000219476.3:p.Thr1071del
ENST00000350773.8:c.3210_3212del	ENSP00000344383.4:p.Thr1071del
ENST00000382538.10:c.2934_2936del	ENSP00000371978.6:p.Thr979del
ENST00000401874.6:c.3078_3080del	ENSP00000384468.2:p.Thr1027del
ENST00000439117.6:c.*2377_*2379del	ENSP00000406980.2:n.*2377_*2379del
ENST00000439673.6:c.2970_2972del	ENSP00000399232.2:p.Thr991del
ENST00000471143.5:c.436_438del
ENST00000483020.5:c.450_452del	ENSP00000460310.1:n.450_452del
ENST00000497886.5:n.1037_1039del
ENST00000561695.1:n.435_437del
ENST00000568366.5:n.567_569del
ENST00000568454.5:c.3111_3113del	ENSP00000454487.1:p.Thr1038del
NM_000548.3:c.3210_3212del , LRG_487t1:c.3210_3212del	NP_000539.2:p.Thr1071del
NM_001077183.1:c.3078_3080del	NP_001070651.1:p.Thr1027del
NM_001114382.1:c.3210_3212del	NP_001107854.1:p.Thr1071del
XM_005255529.3:c.3081_3083del	XP_005255586.2:p.Thr1028del
XM_005255531.3:c.3081_3083del	XP_005255588.2:p.Thr1028del
XM_011522636.1:c.3210_3212del	XP_011520938.1:p.Thr1071del
XM_011522637.1:c.3207_3209del	XP_011520939.1:p.Thr1070del
XM_011522638.1:c.3099_3101del	XP_011520940.1:p.Thr1034del
XM_011522639.1:c.3081_3083del	XP_011520941.1:p.Thr1028del
XM_011522640.1:c.3078_3080del	XP_011520942.1:p.Thr1027del
XM_011522641.1:c.2970_2972del	XP_011520943.1:p.Thr991del
NM_000548.4:c.3210_3212del	NP_000539.2:p.Thr1071del
NM_001077183.2:c.3078_3080del	NP_001070651.1:p.Thr1027del
NM_001114382.2:c.3210_3212del	NP_001107854.1:p.Thr1071del
NM_001318827.1:c.2970_2972del	NP_001305756.1:p.Thr991del
NM_001318829.1:c.2934_2936del	NP_001305758.1:p.Thr979del
NM_001318831.1:c.2478_2480del	NP_001305760.1:p.Thr827del
NM_001318832.1:c.3111_3113del	NP_001305761.1:p.Thr1038del
NM_001363528.1:c.3081_3083del	NP_001350457.1:p.Thr1028del
NM_021055.2:c.3081_3083del	NP_066399.2:p.Thr1028del
XM_005255531.4:c.3081_3083del	XP_005255588.2:p.Thr1028del
XM_011522636.2:c.3210_3212del	XP_011520938.1:p.Thr1071del
XM_011522637.2:c.3207_3209del	XP_011520939.1:p.Thr1070del
XM_011522638.2:c.3372_3374del	XP_011520940.2:p.Thr1125del
XM_011522639.2:c.3081_3083del	XP_011520941.1:p.Thr1028del
XM_011522640.2:c.3078_3080del	XP_011520942.1:p.Thr1027del
XM_017023615.1:c.3207_3209del	XP_016879104.1:p.Thr1070del
XM_017023616.1:c.3078_3080del	XP_016879105.1:p.Thr1027del
XM_017023617.1:c.3243_3245del	XP_016879106.1:p.Thr1082del
XM_017023618.1:c.1866_1868del	XP_016879107.1:p.Thr623del
XM_024450413.1:c.3078_3080del	XP_024306181.1:p.Thr1027del
NM_000548.5:c.3210_3212del MANE Select	NP_000539.2:p.Thr1071del
NM_001370404.1:c.3078_3080del	NP_001357333.1:p.Thr1027del
NM_001370405.1:c.3081_3083del	NP_001357334.1:p.Thr1028del
NM_001077183.3:c.3078_3080del	NP_001070651.1:p.Thr1027del
NM_001114382.3:c.3210_3212del	NP_001107854.1:p.Thr1071del
NM_001318827.2:c.2970_2972del	NP_001305756.1:p.Thr991del
NM_001318829.2:c.2934_2936del	NP_001305758.1:p.Thr979del
NM_001318831.2:c.2478_2480del	NP_001305760.1:p.Thr827del
NM_001318832.2:c.3111_3113del	NP_001305761.1:p.Thr1038del
NM_001363528.2:c.3081_3083del	NP_001350457.1:p.Thr1028del
NM_021055.3:c.3081_3083del	NP_066399.2:p.Thr1028del