Canonical Allele Identifier: CA2695221659

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086829_2086834dup , CM000678.2:g.2086829_2086834dup	GRCh38
NC_000016.9:g.2136830_2136835dup , CM000678.1:g.2136830_2136835dup	GRCh37
NC_000016.8:g.2076831_2076836dup	NCBI36
NG_005895.1:g.42524_42529dup , LRG_487:g.42524_42529dup
NG_008617.1:g.56387_56392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3296_*3301dup	ENSP00000455997.2:n.*3296_*3301dup
ENST00000642206.2:c.4794_4799dup	ENSP00000495146.2:p.Asn1600_Asp1601insTyrAsn
ENST00000642365.2:c.4944_4949dup	ENSP00000495459.2:p.Asn1650_Asp1651insTyrAsn
ENST00000644417.2:c.*5460_*5465dup	ENSP00000493912.2:n.*5460_*5465dup
ENST00000646464.2:c.*7696_*7701dup	ENSP00000496610.2:n.*7696_*7701dup
ENST00000219476.9:c.4947_4952dup MANE Select	ENSP00000219476.3:p.Asn1651_Asp1652insTyrAsn
ENST00000350773.9:c.4878_4883dup	ENSP00000344383.4:p.Asn1628_Asp1629insTyrAsn
ENST00000401874.7:c.4746_4751dup	ENSP00000384468.2:p.Asn1584_Asp1585insTyrAsn
ENST00000568454.6:c.4779_4784dup	ENSP00000454487.1:p.Asn1595_Asp1596insTyrAsn
ENST00000569110.2:c.1170_1175dup
ENST00000569930.2:n.2829_2834dup
ENST00000642365.1:c.3601_3606dup
ENST00000642561.1:c.4818_4823dup	ENSP00000495099.1:p.Asn1608_Asp1609insTyrAsn
ENST00000642728.1:n.1129_1134dup
ENST00000642791.1:n.544_549dup
ENST00000642797.1:c.4749_4754dup	ENSP00000493846.1:p.Asn1585_Asp1586insTyrAsn
ENST00000642936.1:c.4815_4820dup	ENSP00000494514.1:p.Asn1607_Asp1608insTyrAsn
ENST00000643088.1:c.4740_4745dup	ENSP00000494747.1:p.Asn1582_Asp1583insTyrAsn
ENST00000643177.1:n.961_966dup
ENST00000643426.1:n.2595_2600dup
ENST00000643946.1:c.4872_4877dup	ENSP00000495927.1:p.Asn1626_Asp1627insTyrAsn
ENST00000644043.1:c.4818_4823dup	ENSP00000496262.1:p.Asn1608_Asp1609insTyrAsn
ENST00000644278.1:n.429_434dup
ENST00000644329.1:c.4746_4751dup	ENSP00000496611.1:p.Asn1584_Asp1585insTyrAsn
ENST00000644335.1:c.4743_4748dup	ENSP00000496317.1:p.Asn1583_Asp1584insTyrAsn
ENST00000644399.1:c.4868_4873dup
ENST00000645024.1:n.3031_3036dup
ENST00000646388.1:c.4941_4946dup	ENSP00000495921.1:p.Asn1649_Asp1650insTyrAsn
ENST00000646557.1:n.108_113dup
ENST00000646634.1:n.3762_3767dup
ENST00000646674.1:n.2199_2204dup
ENST00000647042.1:n.2170_2175dup
ENST00000647180.1:n.2060_2065dup
ENST00000219476.7:c.4947_4952dup	ENSP00000219476.3:p.Asn1651_Asp1652insTyrAsn
ENST00000350773.8:c.4878_4883dup	ENSP00000344383.4:p.Asn1628_Asp1629insTyrAsn
ENST00000382538.10:c.4602_4607dup	ENSP00000371978.6:p.Asn1536_Asp1537insTyrAsn
ENST00000401874.6:c.4746_4751dup	ENSP00000384468.2:p.Asn1584_Asp1585insTyrAsn
ENST00000439117.6:c.*4114_*4119dup	ENSP00000406980.2:n.*4114_*4119dup
ENST00000439673.6:c.4638_4643dup	ENSP00000399232.2:p.Asn1548_Asp1549insTyrAsn
ENST00000497886.5:n.2670_2675dup
ENST00000568454.5:c.4779_4784dup	ENSP00000454487.1:p.Asn1595_Asp1596insTyrAsn
ENST00000569110.1:c.1129_1134dup
ENST00000569930.1:n.2062_2067dup
NM_000548.3:c.4947_4952dup , LRG_487t1:c.4947_4952dup	NP_000539.2:p.Asn1651_Asp1652insTyrAsn
NM_001077183.1:c.4746_4751dup	NP_001070651.1:p.Asn1584_Asp1585insTyrAsn
NM_001114382.1:c.4878_4883dup	NP_001107854.1:p.Asn1628_Asp1629insTyrAsn
XM_005255529.3:c.4818_4823dup	XP_005255586.2:p.Asn1608_Asp1609insTyrAsn
XM_005255531.3:c.4749_4754dup	XP_005255588.2:p.Asn1585_Asp1586insTyrAsn
XM_011522636.1:c.5001_5006dup	XP_011520938.1:p.Asn1669_Asp1670insTyrAsn
XM_011522637.1:c.4998_5003dup	XP_011520939.1:p.Asn1668_Asp1669insTyrAsn
XM_011522638.1:c.4890_4895dup	XP_011520940.1:p.Asn1632_Asp1633insTyrAsn
XM_011522639.1:c.4872_4877dup	XP_011520941.1:p.Asn1626_Asp1627insTyrAsn
XM_011522640.1:c.4869_4874dup	XP_011520942.1:p.Asn1625_Asp1626insTyrAsn
XM_011522641.1:c.4638_4643dup	XP_011520943.1:p.Asn1548_Asp1549insTyrAsn
NM_000548.4:c.4947_4952dup	NP_000539.2:p.Asn1651_Asp1652insTyrAsn
NM_001077183.2:c.4746_4751dup	NP_001070651.1:p.Asn1584_Asp1585insTyrAsn
NM_001114382.2:c.4878_4883dup	NP_001107854.1:p.Asn1628_Asp1629insTyrAsn
NM_001318827.1:c.4638_4643dup	NP_001305756.1:p.Asn1548_Asp1549insTyrAsn
NM_001318829.1:c.4602_4607dup	NP_001305758.1:p.Asn1536_Asp1537insTyrAsn
NM_001318831.1:c.4215_4220dup	NP_001305760.1:p.Asn1407_Asp1408insTyrAsn
NM_001318832.1:c.4779_4784dup	NP_001305761.1:p.Asn1595_Asp1596insTyrAsn
NM_001363528.1:c.4749_4754dup	NP_001350457.1:p.Asn1585_Asp1586insTyrAsn
NM_021055.2:c.4818_4823dup	NP_066399.2:p.Asn1608_Asp1609insTyrAsn
XM_005255531.4:c.4749_4754dup	XP_005255588.2:p.Asn1585_Asp1586insTyrAsn
XM_011522636.2:c.5001_5006dup	XP_011520938.1:p.Asn1669_Asp1670insTyrAsn
XM_011522637.2:c.4998_5003dup	XP_011520939.1:p.Asn1668_Asp1669insTyrAsn
XM_011522638.2:c.5163_5168dup	XP_011520940.2:p.Asn1723_Asp1724insTyrAsn
XM_011522639.2:c.4872_4877dup	XP_011520941.1:p.Asn1626_Asp1627insTyrAsn
XM_011522640.2:c.4869_4874dup	XP_011520942.1:p.Asn1625_Asp1626insTyrAsn
XM_017023615.1:c.4944_4949dup	XP_016879104.1:p.Asn1650_Asp1651insTyrAsn
XM_017023616.1:c.4815_4820dup	XP_016879105.1:p.Asn1607_Asp1608insTyrAsn
XM_017023617.1:c.4911_4916dup	XP_016879106.1:p.Asn1639_Asp1640insTyrAsn
XM_017023618.1:c.3657_3662dup	XP_016879107.1:p.Asn1221_Asp1222insTyrAsn
XM_024450413.1:c.4746_4751dup	XP_024306181.1:p.Asn1584_Asp1585insTyrAsn
NM_000548.5:c.4947_4952dup MANE Select	NP_000539.2:p.Asn1651_Asp1652insTyrAsn
NM_001370404.1:c.4815_4820dup	NP_001357333.1:p.Asn1607_Asp1608insTyrAsn
NM_001370405.1:c.4818_4823dup	NP_001357334.1:p.Asn1608_Asp1609insTyrAsn
NM_001077183.3:c.4746_4751dup	NP_001070651.1:p.Asn1584_Asp1585insTyrAsn
NM_001114382.3:c.4878_4883dup	NP_001107854.1:p.Asn1628_Asp1629insTyrAsn
NM_001318827.2:c.4638_4643dup	NP_001305756.1:p.Asn1548_Asp1549insTyrAsn
NM_001318829.2:c.4602_4607dup	NP_001305758.1:p.Asn1536_Asp1537insTyrAsn
NM_001318831.2:c.4215_4220dup	NP_001305760.1:p.Asn1407_Asp1408insTyrAsn
NM_001318832.2:c.4779_4784dup	NP_001305761.1:p.Asn1595_Asp1596insTyrAsn
NM_001363528.2:c.4749_4754dup	NP_001350457.1:p.Asn1585_Asp1586insTyrAsn
NM_021055.3:c.4818_4823dup	NP_066399.2:p.Asn1608_Asp1609insTyrAsn