Canonical Allele Identifier: CA1139664271

Gene: TSC2

Linked Data

• ClinVar Variation Id: 970804
• ClinVar RCV Id: RCV001246448
• dbSNP Id: rs2090159838

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081681_2081682insGA , CM000678.2:g.2081681_2081682insGA	GRCh38
NC_000016.9:g.2131682_2131683insGA , CM000678.1:g.2131682_2131683insGA	GRCh37
NC_000016.8:g.2071683_2071684insGA	NCBI36
NG_005895.1:g.37376_37377insGA , LRG_487:g.37376_37377insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2115_*2116insGA	ENSP00000455997.2:n.*2115_*2116insGA
ENST00000642206.2:c.3613_3614insGA	ENSP00000495146.2:p.Asn1205ArgfsTer?
ENST00000642365.2:c.3694_3695insGA	ENSP00000495459.2:p.Asn1232ArgfsTer?
ENST00000644417.2:c.*4146_*4147insGA	ENSP00000493912.2:n.*4146_*4147insGA
ENST00000646464.2:c.*4619_*4620insGA	ENSP00000496610.2:n.*4619_*4620insGA
ENST00000219476.9:c.3697_3698insGA MANE Select	ENSP00000219476.3:p.Asn1233ArgfsTer?
ENST00000350773.9:c.3697_3698insGA	ENSP00000344383.4:p.Asn1233ArgfsTer?
ENST00000401874.7:c.3565_3566insGA	ENSP00000384468.2:p.Asn1189ArgfsTer?
ENST00000568454.6:c.3598_3599insGA	ENSP00000454487.1:p.Asn1200ArgfsTer?
ENST00000642365.1:c.2351_2352insGA
ENST00000642561.1:c.3568_3569insGA	ENSP00000495099.1:p.Asn1190ArgfsTer?
ENST00000642797.1:c.3568_3569insGA	ENSP00000493846.1:p.Asn1190ArgfsTer?
ENST00000642936.1:c.3565_3566insGA	ENSP00000494514.1:p.Asn1189ArgfsTer?
ENST00000643088.1:c.3565_3566insGA	ENSP00000494747.1:p.Asn1189ArgfsTer?
ENST00000643426.1:n.1345_1346insGA
ENST00000643533.1:n.207_208insGA
ENST00000643946.1:c.3697_3698insGA	ENSP00000495927.1:p.Asn1233ArgfsTer?
ENST00000644043.1:c.3568_3569insGA	ENSP00000496262.1:p.Asn1190ArgfsTer?
ENST00000644329.1:c.3565_3566insGA	ENSP00000496611.1:p.Asn1189ArgfsTer?
ENST00000644335.1:c.3568_3569insGA	ENSP00000496317.1:p.Asn1190ArgfsTer?
ENST00000644399.1:c.3687_3688insGA
ENST00000644722.1:n.843_844insGA
ENST00000645024.1:n.1850_1851insGA
ENST00000646388.1:c.3697_3698insGA	ENSP00000495921.1:p.Asn1233ArgfsTer?
ENST00000646634.1:n.2581_2582insGA
ENST00000646674.1:n.312_313insGA
ENST00000647042.1:n.989_990insGA
ENST00000647180.1:n.177_178insGA
ENST00000219476.7:c.3697_3698insGA	ENSP00000219476.3:p.Asn1233ArgfsTer?
ENST00000350773.8:c.3697_3698insGA	ENSP00000344383.4:p.Asn1233ArgfsTer?
ENST00000382538.10:c.3421_3422insGA	ENSP00000371978.6:p.Asn1141ArgfsTer?
ENST00000401874.6:c.3565_3566insGA	ENSP00000384468.2:p.Asn1189ArgfsTer?
ENST00000439117.6:c.*2864_*2865insGA	ENSP00000406980.2:n.*2864_*2865insGA
ENST00000439673.6:c.3457_3458insGA	ENSP00000399232.2:p.Asn1153ArgfsTer?
ENST00000497886.5:n.1524_1525insGA
ENST00000568454.5:c.3598_3599insGA	ENSP00000454487.1:p.Asn1200ArgfsTer?
NM_000548.3:c.3697_3698insGA , LRG_487t1:c.3697_3698insGA	NP_000539.2:p.Asn1233ArgfsTer?
NM_001077183.1:c.3565_3566insGA	NP_001070651.1:p.Asn1189ArgfsTer?
NM_001114382.1:c.3697_3698insGA	NP_001107854.1:p.Asn1233ArgfsTer?
XM_005255529.3:c.3568_3569insGA	XP_005255586.2:p.Asn1190ArgfsTer?
XM_005255531.3:c.3568_3569insGA	XP_005255588.2:p.Asn1190ArgfsTer?
XM_011522636.1:c.3697_3698insGA	XP_011520938.1:p.Asn1233ArgfsTer?
XM_011522637.1:c.3694_3695insGA	XP_011520939.1:p.Asn1232ArgfsTer?
XM_011522638.1:c.3586_3587insGA	XP_011520940.1:p.Asn1196ArgfsTer?
XM_011522639.1:c.3568_3569insGA	XP_011520941.1:p.Asn1190ArgfsTer?
XM_011522640.1:c.3565_3566insGA	XP_011520942.1:p.Asn1189ArgfsTer?
XM_011522641.1:c.3457_3458insGA	XP_011520943.1:p.Asn1153ArgfsTer?
NM_000548.4:c.3697_3698insGA	NP_000539.2:p.Asn1233ArgfsTer?
NM_001077183.2:c.3565_3566insGA	NP_001070651.1:p.Asn1189ArgfsTer?
NM_001114382.2:c.3697_3698insGA	NP_001107854.1:p.Asn1233ArgfsTer?
NM_001318827.1:c.3457_3458insGA	NP_001305756.1:p.Asn1153ArgfsTer?
NM_001318829.1:c.3421_3422insGA	NP_001305758.1:p.Asn1141ArgfsTer?
NM_001318831.1:c.2965_2966insGA	NP_001305760.1:p.Asn989ArgfsTer?
NM_001318832.1:c.3598_3599insGA	NP_001305761.1:p.Asn1200ArgfsTer?
NM_001363528.1:c.3568_3569insGA	NP_001350457.1:p.Asn1190ArgfsTer?
NM_021055.2:c.3568_3569insGA	NP_066399.2:p.Asn1190ArgfsTer?
XM_005255531.4:c.3568_3569insGA	XP_005255588.2:p.Asn1190ArgfsTer?
XM_011522636.2:c.3697_3698insGA	XP_011520938.1:p.Asn1233ArgfsTer?
XM_011522637.2:c.3694_3695insGA	XP_011520939.1:p.Asn1232ArgfsTer?
XM_011522638.2:c.3859_3860insGA	XP_011520940.2:p.Asn1287ArgfsTer?
XM_011522639.2:c.3568_3569insGA	XP_011520941.1:p.Asn1190ArgfsTer?
XM_011522640.2:c.3565_3566insGA	XP_011520942.1:p.Asn1189ArgfsTer?
XM_017023615.1:c.3694_3695insGA	XP_016879104.1:p.Asn1232ArgfsTer?
XM_017023616.1:c.3565_3566insGA	XP_016879105.1:p.Asn1189ArgfsTer?
XM_017023617.1:c.3730_3731insGA	XP_016879106.1:p.Asn1244ArgfsTer?
XM_017023618.1:c.2353_2354insGA	XP_016879107.1:p.Asn785ArgfsTer?
XM_024450413.1:c.3565_3566insGA	XP_024306181.1:p.Asn1189ArgfsTer?
NM_000548.5:c.3697_3698insGA MANE Select	NP_000539.2:p.Asn1233ArgfsTer?
NM_001370404.1:c.3565_3566insGA	NP_001357333.1:p.Asn1189ArgfsTer?
NM_001370405.1:c.3568_3569insGA	NP_001357334.1:p.Asn1190ArgfsTer?
NM_001077183.3:c.3565_3566insGA	NP_001070651.1:p.Asn1189ArgfsTer?
NM_001114382.3:c.3697_3698insGA	NP_001107854.1:p.Asn1233ArgfsTer?
NM_001318827.2:c.3457_3458insGA	NP_001305756.1:p.Asn1153ArgfsTer?
NM_001318829.2:c.3421_3422insGA	NP_001305758.1:p.Asn1141ArgfsTer?
NM_001318831.2:c.2965_2966insGA	NP_001305760.1:p.Asn989ArgfsTer?
NM_001318832.2:c.3598_3599insGA	NP_001305761.1:p.Asn1200ArgfsTer?
NM_001363528.2:c.3568_3569insGA	NP_001350457.1:p.Asn1190ArgfsTer?
NM_021055.3:c.3568_3569insGA	NP_066399.2:p.Asn1190ArgfsTer?