Canonical Allele Identifier: CA019127

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65331
• ClinVar RCV Id: RCV000055555
• dbSNP Id: rs397515244
• MyVariant Identifiers: chr16:g.2130181_2130182insC (hg19) ; chr16:g.2080180_2080181insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2080180_2080181insC , CM000678.2:g.2080180_2080181insC	GRCh38
NC_000016.9:g.2130181_2130182insC , CM000678.1:g.2130181_2130182insC	GRCh37
NC_000016.8:g.2070182_2070183insC	NCBI36
NG_005895.1:g.35875_35876insC , LRG_487:g.35875_35876insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1831_*1832insC	ENSP00000455997.2:n.*1831_*1832insC
ENST00000642206.2:c.3329_3330insC	ENSP00000495146.2:p.Val1111SerfsTer29
ENST00000642365.2:c.3410_3411insC	ENSP00000495459.2:p.Val1138SerfsTer29
ENST00000644417.2:c.*3862_*3863insC	ENSP00000493912.2:n.*3862_*3863insC
ENST00000646464.2:c.*4335_*4336insC	ENSP00000496610.2:n.*4335_*4336insC
ENST00000219476.9:c.3413_3414insC MANE Select	ENSP00000219476.3:p.Val1139SerfsTer29
ENST00000350773.9:c.3413_3414insC	ENSP00000344383.4:p.Val1139SerfsTer29
ENST00000401874.7:c.3281_3282insC	ENSP00000384468.2:p.Val1095SerfsTer29
ENST00000568454.6:c.3314_3315insC	ENSP00000454487.1:p.Val1106SerfsTer29
ENST00000642365.1:c.2067_2068insC
ENST00000642561.1:c.3284_3285insC	ENSP00000495099.1:p.Val1096SerfsTer29
ENST00000642797.1:c.3284_3285insC	ENSP00000493846.1:p.Val1096SerfsTer29
ENST00000642936.1:c.3281_3282insC	ENSP00000494514.1:p.Val1095SerfsTer29
ENST00000643088.1:c.3281_3282insC	ENSP00000494747.1:p.Val1095SerfsTer29
ENST00000643946.1:c.3413_3414insC	ENSP00000495927.1:p.Val1139SerfsTer29
ENST00000644043.1:c.3284_3285insC	ENSP00000496262.1:p.Val1096SerfsTer29
ENST00000644329.1:c.3281_3282insC	ENSP00000496611.1:p.Val1095SerfsTer29
ENST00000644335.1:c.3284_3285insC	ENSP00000496317.1:p.Val1096SerfsTer29
ENST00000644399.1:c.3403_3404insC
ENST00000644722.1:n.559_560insC
ENST00000645024.1:n.1566_1567insC
ENST00000646388.1:c.3413_3414insC	ENSP00000495921.1:p.Val1139SerfsTer29
ENST00000646634.1:n.2297_2298insC
ENST00000646674.1:n.28_29insC
ENST00000647042.1:n.705_706insC
ENST00000219476.7:c.3413_3414insC	ENSP00000219476.3:p.Val1139SerfsTer29
ENST00000350773.8:c.3413_3414insC	ENSP00000344383.4:p.Val1139SerfsTer29
ENST00000382538.10:c.3137_3138insC	ENSP00000371978.6:p.Val1047SerfsTer29
ENST00000401874.6:c.3281_3282insC	ENSP00000384468.2:p.Val1095SerfsTer29
ENST00000439117.6:c.*2580_*2581insC	ENSP00000406980.2:n.*2580_*2581insC
ENST00000439673.6:c.3173_3174insC	ENSP00000399232.2:p.Val1059SerfsTer29
ENST00000497886.5:n.1240_1241insC
ENST00000568454.5:c.3314_3315insC	ENSP00000454487.1:p.Val1106SerfsTer29
NM_000548.3:c.3413_3414insC , LRG_487t1:c.3413_3414insC	NP_000539.2:p.Val1139SerfsTer29
NM_001077183.1:c.3281_3282insC	NP_001070651.1:p.Val1095SerfsTer29
NM_001114382.1:c.3413_3414insC	NP_001107854.1:p.Val1139SerfsTer29
XM_005255529.3:c.3284_3285insC	XP_005255586.2:p.Val1096SerfsTer29
XM_005255531.3:c.3284_3285insC	XP_005255588.2:p.Val1096SerfsTer29
XM_011522636.1:c.3413_3414insC	XP_011520938.1:p.Val1139SerfsTer29
XM_011522637.1:c.3410_3411insC	XP_011520939.1:p.Val1138SerfsTer29
XM_011522638.1:c.3302_3303insC	XP_011520940.1:p.Val1102SerfsTer29
XM_011522639.1:c.3284_3285insC	XP_011520941.1:p.Val1096SerfsTer29
XM_011522640.1:c.3281_3282insC	XP_011520942.1:p.Val1095SerfsTer29
XM_011522641.1:c.3173_3174insC	XP_011520943.1:p.Val1059SerfsTer29
NM_000548.4:c.3413_3414insC	NP_000539.2:p.Val1139SerfsTer29
NM_001077183.2:c.3281_3282insC	NP_001070651.1:p.Val1095SerfsTer29
NM_001114382.2:c.3413_3414insC	NP_001107854.1:p.Val1139SerfsTer29
NM_001318827.1:c.3173_3174insC	NP_001305756.1:p.Val1059SerfsTer29
NM_001318829.1:c.3137_3138insC	NP_001305758.1:p.Val1047SerfsTer29
NM_001318831.1:c.2681_2682insC	NP_001305760.1:p.Val895SerfsTer29
NM_001318832.1:c.3314_3315insC	NP_001305761.1:p.Val1106SerfsTer29
NM_001363528.1:c.3284_3285insC	NP_001350457.1:p.Val1096SerfsTer29
NM_021055.2:c.3284_3285insC	NP_066399.2:p.Val1096SerfsTer29
XM_005255531.4:c.3284_3285insC	XP_005255588.2:p.Val1096SerfsTer29
XM_011522636.2:c.3413_3414insC	XP_011520938.1:p.Val1139SerfsTer29
XM_011522637.2:c.3410_3411insC	XP_011520939.1:p.Val1138SerfsTer29
XM_011522638.2:c.3575_3576insC	XP_011520940.2:p.Val1193SerfsTer29
XM_011522639.2:c.3284_3285insC	XP_011520941.1:p.Val1096SerfsTer29
XM_011522640.2:c.3281_3282insC	XP_011520942.1:p.Val1095SerfsTer29
XM_017023615.1:c.3410_3411insC	XP_016879104.1:p.Val1138SerfsTer29
XM_017023616.1:c.3281_3282insC	XP_016879105.1:p.Val1095SerfsTer29
XM_017023617.1:c.3446_3447insC	XP_016879106.1:p.Val1150SerfsTer29
XM_017023618.1:c.2069_2070insC	XP_016879107.1:p.Val691SerfsTer29
XM_024450413.1:c.3281_3282insC	XP_024306181.1:p.Val1095SerfsTer29
NM_000548.5:c.3413_3414insC MANE Select	NP_000539.2:p.Val1139SerfsTer29
NM_001370404.1:c.3281_3282insC	NP_001357333.1:p.Val1095SerfsTer29
NM_001370405.1:c.3284_3285insC	NP_001357334.1:p.Val1096SerfsTer29
NM_001077183.3:c.3281_3282insC	NP_001070651.1:p.Val1095SerfsTer29
NM_001114382.3:c.3413_3414insC	NP_001107854.1:p.Val1139SerfsTer29
NM_001318827.2:c.3173_3174insC	NP_001305756.1:p.Val1059SerfsTer29
NM_001318829.2:c.3137_3138insC	NP_001305758.1:p.Val1047SerfsTer29
NM_001318831.2:c.2681_2682insC	NP_001305760.1:p.Val895SerfsTer29
NM_001318832.2:c.3314_3315insC	NP_001305761.1:p.Val1106SerfsTer29
NM_001363528.2:c.3284_3285insC	NP_001350457.1:p.Val1096SerfsTer29
NM_021055.3:c.3284_3285insC	NP_066399.2:p.Val1096SerfsTer29