Canonical Allele Identifier: CA018484

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65316
• ClinVar RCV Id: RCV000055540
• dbSNP Id: rs397515231
• MyVariant Identifiers: chr16:g.2129160_2129161insTTCCATG (hg19) ; chr16:g.2079159_2079160insTTCCATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079159_2079160insTTCCATG , CM000678.2:g.2079159_2079160insTTCCATG	GRCh38
NC_000016.9:g.2129160_2129161insTTCCATG , CM000678.1:g.2129160_2129161insTTCCATG	GRCh37
NC_000016.8:g.2069161_2069162insTTCCATG	NCBI36
NG_005895.1:g.34854_34855insTTCCATG , LRG_487:g.34854_34855insTTCCATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*1512_*1513insTTCCATG	ENSP00000455997.2:n.*1512_*1513insTTCCATG
ENST00000642206.2:c.3010_3011insTTCCATG	ENSP00000495146.2:p.Arg1004LeufsTer?
ENST00000642365.2:c.3091_3092insTTCCATG	ENSP00000495459.2:p.Arg1031LeufsTer?
ENST00000644417.2:c.*3543_*3544insTTCCATG	ENSP00000493912.2:n.*3543_*3544insTTCCATG
ENST00000646464.2:c.*4016_*4017insTTCCATG	ENSP00000496610.2:n.*4016_*4017insTTCCATG
ENST00000219476.9:c.3094_3095insTTCCATG MANE Select	ENSP00000219476.3:p.Arg1032LeufsTer?
ENST00000350773.9:c.3094_3095insTTCCATG	ENSP00000344383.4:p.Arg1032LeufsTer?
ENST00000401874.7:c.2962_2963insTTCCATG	ENSP00000384468.2:p.Arg988LeufsTer?
ENST00000471143.6:c.322_323insTTCCATG	ENSP00000458541.2:n.322_323insTTCCATG
ENST00000568366.6:n.451_452insTTCCATG
ENST00000568454.6:c.2995_2996insTTCCATG	ENSP00000454487.1:p.Arg999LeufsTer?
ENST00000642365.1:c.1748_1749insTTCCATG
ENST00000642561.1:c.2965_2966insTTCCATG	ENSP00000495099.1:p.Arg989LeufsTer?
ENST00000642797.1:c.2965_2966insTTCCATG	ENSP00000493846.1:p.Arg989LeufsTer?
ENST00000642936.1:c.2962_2963insTTCCATG	ENSP00000494514.1:p.Arg988LeufsTer?
ENST00000643088.1:c.2962_2963insTTCCATG	ENSP00000494747.1:p.Arg988LeufsTer?
ENST00000643946.1:c.3094_3095insTTCCATG	ENSP00000495927.1:p.Arg1032LeufsTer?
ENST00000644043.1:c.2965_2966insTTCCATG	ENSP00000496262.1:p.Arg989LeufsTer?
ENST00000644329.1:c.2962_2963insTTCCATG	ENSP00000496611.1:p.Arg988LeufsTer?
ENST00000644335.1:c.2965_2966insTTCCATG	ENSP00000496317.1:p.Arg989LeufsTer?
ENST00000644399.1:c.3084_3085insTTCCATG
ENST00000644722.1:n.240_241insTTCCATG
ENST00000645024.1:n.1247_1248insTTCCATG
ENST00000646388.1:c.3094_3095insTTCCATG	ENSP00000495921.1:p.Arg1032LeufsTer?
ENST00000646634.1:n.1978_1979insTTCCATG
ENST00000647042.1:n.386_387insTTCCATG
ENST00000219476.7:c.3094_3095insTTCCATG	ENSP00000219476.3:p.Arg1032LeufsTer?
ENST00000350773.8:c.3094_3095insTTCCATG	ENSP00000344383.4:p.Arg1032LeufsTer?
ENST00000382538.10:c.2818_2819insTTCCATG	ENSP00000371978.6:p.Arg940LeufsTer?
ENST00000401874.6:c.2962_2963insTTCCATG	ENSP00000384468.2:p.Arg988LeufsTer?
ENST00000439117.6:c.*2261_*2262insTTCCATG	ENSP00000406980.2:n.*2261_*2262insTTCCATG
ENST00000439673.6:c.2854_2855insTTCCATG	ENSP00000399232.2:p.Arg952LeufsTer?
ENST00000471143.5:c.320_321insTTCCATG
ENST00000483020.5:c.334_335insTTCCATG	ENSP00000460310.1:n.334_335insTTCCATG
ENST00000497886.5:n.921_922insTTCCATG
ENST00000561695.1:n.240_241insTTCCATG
ENST00000568366.5:n.451_452insTTCCATG
ENST00000568454.5:c.2995_2996insTTCCATG	ENSP00000454487.1:p.Arg999LeufsTer?
NM_000548.3:c.3094_3095insTTCCATG , LRG_487t1:c.3094_3095insTTCCATG	NP_000539.2:p.Arg1032LeufsTer?
NM_001077183.1:c.2962_2963insTTCCATG	NP_001070651.1:p.Arg988LeufsTer?
NM_001114382.1:c.3094_3095insTTCCATG	NP_001107854.1:p.Arg1032LeufsTer?
XM_005255529.3:c.2965_2966insTTCCATG	XP_005255586.2:p.Arg989LeufsTer?
XM_005255531.3:c.2965_2966insTTCCATG	XP_005255588.2:p.Arg989LeufsTer?
XM_011522636.1:c.3094_3095insTTCCATG	XP_011520938.1:p.Arg1032LeufsTer?
XM_011522637.1:c.3091_3092insTTCCATG	XP_011520939.1:p.Arg1031LeufsTer?
XM_011522638.1:c.2983_2984insTTCCATG	XP_011520940.1:p.Arg995LeufsTer?
XM_011522639.1:c.2965_2966insTTCCATG	XP_011520941.1:p.Arg989LeufsTer?
XM_011522640.1:c.2962_2963insTTCCATG	XP_011520942.1:p.Arg988LeufsTer?
XM_011522641.1:c.2854_2855insTTCCATG	XP_011520943.1:p.Arg952LeufsTer?
NM_000548.4:c.3094_3095insTTCCATG	NP_000539.2:p.Arg1032LeufsTer?
NM_001077183.2:c.2962_2963insTTCCATG	NP_001070651.1:p.Arg988LeufsTer?
NM_001114382.2:c.3094_3095insTTCCATG	NP_001107854.1:p.Arg1032LeufsTer?
NM_001318827.1:c.2854_2855insTTCCATG	NP_001305756.1:p.Arg952LeufsTer?
NM_001318829.1:c.2818_2819insTTCCATG	NP_001305758.1:p.Arg940LeufsTer?
NM_001318831.1:c.2362_2363insTTCCATG	NP_001305760.1:p.Arg788LeufsTer?
NM_001318832.1:c.2995_2996insTTCCATG	NP_001305761.1:p.Arg999LeufsTer?
NM_001363528.1:c.2965_2966insTTCCATG	NP_001350457.1:p.Arg989LeufsTer?
NM_021055.2:c.2965_2966insTTCCATG	NP_066399.2:p.Arg989LeufsTer?
XM_005255531.4:c.2965_2966insTTCCATG	XP_005255588.2:p.Arg989LeufsTer?
XM_011522636.2:c.3094_3095insTTCCATG	XP_011520938.1:p.Arg1032LeufsTer?
XM_011522637.2:c.3091_3092insTTCCATG	XP_011520939.1:p.Arg1031LeufsTer?
XM_011522638.2:c.3256_3257insTTCCATG	XP_011520940.2:p.Arg1086LeufsTer?
XM_011522639.2:c.2965_2966insTTCCATG	XP_011520941.1:p.Arg989LeufsTer?
XM_011522640.2:c.2962_2963insTTCCATG	XP_011520942.1:p.Arg988LeufsTer?
XM_017023615.1:c.3091_3092insTTCCATG	XP_016879104.1:p.Arg1031LeufsTer?
XM_017023616.1:c.2962_2963insTTCCATG	XP_016879105.1:p.Arg988LeufsTer?
XM_017023617.1:c.3127_3128insTTCCATG	XP_016879106.1:p.Arg1043LeufsTer?
XM_017023618.1:c.1750_1751insTTCCATG	XP_016879107.1:p.Arg584LeufsTer?
XM_024450413.1:c.2962_2963insTTCCATG	XP_024306181.1:p.Arg988LeufsTer?
NM_000548.5:c.3094_3095insTTCCATG MANE Select	NP_000539.2:p.Arg1032LeufsTer?
NM_001370404.1:c.2962_2963insTTCCATG	NP_001357333.1:p.Arg988LeufsTer?
NM_001370405.1:c.2965_2966insTTCCATG	NP_001357334.1:p.Arg989LeufsTer?
NM_001077183.3:c.2962_2963insTTCCATG	NP_001070651.1:p.Arg988LeufsTer?
NM_001114382.3:c.3094_3095insTTCCATG	NP_001107854.1:p.Arg1032LeufsTer?
NM_001318827.2:c.2854_2855insTTCCATG	NP_001305756.1:p.Arg952LeufsTer?
NM_001318829.2:c.2818_2819insTTCCATG	NP_001305758.1:p.Arg940LeufsTer?
NM_001318831.2:c.2362_2363insTTCCATG	NP_001305760.1:p.Arg788LeufsTer?
NM_001318832.2:c.2995_2996insTTCCATG	NP_001305761.1:p.Arg999LeufsTer?
NM_001363528.2:c.2965_2966insTTCCATG	NP_001350457.1:p.Arg989LeufsTer?
NM_021055.3:c.2965_2966insTTCCATG	NP_066399.2:p.Arg989LeufsTer?