Canonical Allele Identifier: CA022142

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65073
• ClinVar RCV Id: RCV000055280 ; RCV002266920
• dbSNP Id: rs397515053
• MyVariant Identifiers: chr16:g.2138271_2138274dupTCTA (hg19) ; chr16:g.2088270_2088273dupTCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088270_2088273dup , CM000678.2:g.2088270_2088273dup	GRCh38
NC_000016.9:g.2138271_2138274dup , CM000678.1:g.2138271_2138274dup	GRCh37
NC_000016.8:g.2078272_2078275dup	NCBI36
NG_005895.1:g.43965_43968dup , LRG_487:g.43965_43968dup
NG_008617.1:g.54950_54953dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3553_*3556dup	ENSP00000455997.2:n.*3553_*3556dup
ENST00000642206.2:c.5051_5054dup	ENSP00000495146.2:p.Pro1686LeufsTer?
ENST00000642365.2:c.5201_5204dup	ENSP00000495459.2:p.Pro1736LeufsTer?
ENST00000644417.2:c.*5717_*5720dup	ENSP00000493912.2:n.*5717_*5720dup
ENST00000646464.2:c.*7953_*7956dup	ENSP00000496610.2:n.*7953_*7956dup
ENST00000219476.9:c.5204_5207dup MANE Select	ENSP00000219476.3:p.Pro1737LeufsTer?
ENST00000350773.9:c.5135_5138dup	ENSP00000344383.4:p.Pro1714LeufsTer?
ENST00000401874.7:c.5003_5006dup	ENSP00000384468.2:p.Pro1670LeufsTer?
ENST00000568454.6:c.5036_5039dup	ENSP00000454487.1:p.Pro1681LeufsTer?
ENST00000569110.2:c.1427_1430dup
ENST00000569930.2:n.3086_3089dup
ENST00000642365.1:c.3858_3861dup
ENST00000642561.1:c.5063_5066dup	ENSP00000495099.1:p.Pro1690LeufsTer?
ENST00000642791.1:n.801_804dup
ENST00000642797.1:c.5006_5009dup	ENSP00000493846.1:p.Pro1671LeufsTer?
ENST00000642936.1:c.5072_5075dup	ENSP00000494514.1:p.Pro1693LeufsTer?
ENST00000643088.1:c.4997_5000dup	ENSP00000494747.1:p.Pro1668LeufsTer?
ENST00000643426.1:n.2852_2855dup
ENST00000643946.1:c.5129_5132dup	ENSP00000495927.1:p.Pro1712LeufsTer?
ENST00000644043.1:c.5075_5078dup	ENSP00000496262.1:p.Pro1694LeufsTer?
ENST00000644329.1:c.5090_5093dup	ENSP00000496611.1:p.Pro1699LeufsTer?
ENST00000644335.1:c.5000_5003dup	ENSP00000496317.1:p.Pro1669LeufsTer?
ENST00000644399.1:c.5125_5128dup
ENST00000645024.1:n.3288_3291dup
ENST00000646388.1:c.5198_5201dup	ENSP00000495921.1:p.Pro1735LeufsTer?
ENST00000646634.1:n.4019_4022dup
ENST00000646674.1:n.2456_2459dup
ENST00000647042.1:n.2427_2430dup
ENST00000647180.1:n.2317_2320dup
ENST00000219476.7:c.5204_5207dup	ENSP00000219476.3:p.Pro1737LeufsTer?
ENST00000350773.8:c.5135_5138dup	ENSP00000344383.4:p.Pro1714LeufsTer?
ENST00000382538.10:c.4859_4862dup	ENSP00000371978.6:p.Pro1622LeufsTer?
ENST00000401874.6:c.5003_5006dup	ENSP00000384468.2:p.Pro1670LeufsTer?
ENST00000439117.6:c.*4371_*4374dup	ENSP00000406980.2:n.*4371_*4374dup
ENST00000439673.6:c.4895_4898dup	ENSP00000399232.2:p.Pro1634LeufsTer?
ENST00000497886.5:n.2927_2930dup
ENST00000568454.5:c.5036_5039dup	ENSP00000454487.1:p.Pro1681LeufsTer?
ENST00000569110.1:c.1386_1389dup
ENST00000569930.1:n.2319_2322dup
NM_000548.3:c.5204_5207dup , LRG_487t1:c.5204_5207dup	NP_000539.2:p.Pro1737LeufsTer?
NM_001077183.1:c.5003_5006dup	NP_001070651.1:p.Pro1670LeufsTer?
NM_001114382.1:c.5135_5138dup	NP_001107854.1:p.Pro1714LeufsTer?
XM_005255529.3:c.5075_5078dup	XP_005255586.2:p.Pro1694LeufsTer?
XM_005255531.3:c.5006_5009dup	XP_005255588.2:p.Pro1671LeufsTer?
XM_011522636.1:c.5258_5261dup	XP_011520938.1:p.Pro1755LeufsTer?
XM_011522637.1:c.5255_5258dup	XP_011520939.1:p.Pro1754LeufsTer?
XM_011522638.1:c.5147_5150dup	XP_011520940.1:p.Pro1718LeufsTer?
XM_011522639.1:c.5129_5132dup	XP_011520941.1:p.Pro1712LeufsTer?
XM_011522640.1:c.5126_5129dup	XP_011520942.1:p.Pro1711LeufsTer?
XM_011522641.1:c.4895_4898dup	XP_011520943.1:p.Pro1634LeufsTer?
NM_000548.4:c.5204_5207dup	NP_000539.2:p.Pro1737LeufsTer?
NM_001077183.2:c.5003_5006dup	NP_001070651.1:p.Pro1670LeufsTer?
NM_001114382.2:c.5135_5138dup	NP_001107854.1:p.Pro1714LeufsTer?
NM_001318827.1:c.4895_4898dup	NP_001305756.1:p.Pro1634LeufsTer?
NM_001318829.1:c.4859_4862dup	NP_001305758.1:p.Pro1622LeufsTer?
NM_001318831.1:c.4472_4475dup	NP_001305760.1:p.Pro1493LeufsTer?
NM_001318832.1:c.5036_5039dup	NP_001305761.1:p.Pro1681LeufsTer?
NM_001363528.1:c.5006_5009dup	NP_001350457.1:p.Pro1671LeufsTer?
NM_021055.2:c.5075_5078dup	NP_066399.2:p.Pro1694LeufsTer?
XM_005255531.4:c.5006_5009dup	XP_005255588.2:p.Pro1671LeufsTer?
XM_011522636.2:c.5258_5261dup	XP_011520938.1:p.Pro1755LeufsTer?
XM_011522637.2:c.5255_5258dup	XP_011520939.1:p.Pro1754LeufsTer?
XM_011522638.2:c.5420_5423dup	XP_011520940.2:p.Pro1809LeufsTer?
XM_011522639.2:c.5129_5132dup	XP_011520941.1:p.Pro1712LeufsTer?
XM_011522640.2:c.5126_5129dup	XP_011520942.1:p.Pro1711LeufsTer?
XM_017023615.1:c.5201_5204dup	XP_016879104.1:p.Pro1736LeufsTer?
XM_017023616.1:c.5072_5075dup	XP_016879105.1:p.Pro1693LeufsTer?
XM_017023617.1:c.5168_5171dup	XP_016879106.1:p.Pro1725LeufsTer?
XM_017023618.1:c.3914_3917dup	XP_016879107.1:p.Pro1307LeufsTer?
XM_024450413.1:c.5090_5093dup	XP_024306181.1:p.Pro1699LeufsTer?
NM_000548.5:c.5204_5207dup MANE Select	NP_000539.2:p.Pro1737LeufsTer?
NM_001370404.1:c.5072_5075dup	NP_001357333.1:p.Pro1693LeufsTer?
NM_001370405.1:c.5063_5066dup	NP_001357334.1:p.Pro1690LeufsTer?
NM_001077183.3:c.5003_5006dup	NP_001070651.1:p.Pro1670LeufsTer?
NM_001114382.3:c.5135_5138dup	NP_001107854.1:p.Pro1714LeufsTer?
NM_001318827.2:c.4895_4898dup	NP_001305756.1:p.Pro1634LeufsTer?
NM_001318829.2:c.4859_4862dup	NP_001305758.1:p.Pro1622LeufsTer?
NM_001318831.2:c.4472_4475dup	NP_001305760.1:p.Pro1493LeufsTer?
NM_001318832.2:c.5036_5039dup	NP_001305761.1:p.Pro1681LeufsTer?
NM_001363528.2:c.5006_5009dup	NP_001350457.1:p.Pro1671LeufsTer?
NM_021055.3:c.5075_5078dup	NP_066399.2:p.Pro1694LeufsTer?