Canonical Allele Identifier: CA2695221754

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088258dup , CM000678.2:g.2088258dup	GRCh38
NC_000016.9:g.2138259dup , CM000678.1:g.2138259dup	GRCh37
NC_000016.8:g.2078260dup	NCBI36
NG_005895.1:g.43953dup , LRG_487:g.43953dup
NG_008617.1:g.54964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3541dup	ENSP00000455997.2:n.*3541dup
ENST00000642206.2:c.5039dup	ENSP00000495146.2:p.Asn1680LysfsTer?
ENST00000642365.2:c.5189dup	ENSP00000495459.2:p.Asn1730LysfsTer?
ENST00000644417.2:c.*5705dup	ENSP00000493912.2:n.*5705dup
ENST00000646464.2:c.*7941dup	ENSP00000496610.2:n.*7941dup
ENST00000219476.9:c.5192dup MANE Select	ENSP00000219476.3:p.Asn1731LysfsTer?
ENST00000350773.9:c.5123dup	ENSP00000344383.4:p.Asn1708LysfsTer?
ENST00000401874.7:c.4991dup	ENSP00000384468.2:p.Asn1664LysfsTer?
ENST00000568454.6:c.5024dup	ENSP00000454487.1:p.Asn1675LysfsTer?
ENST00000569110.2:c.1415dup
ENST00000569930.2:n.3074dup
ENST00000642365.1:c.3846dup
ENST00000642561.1:c.5051dup	ENSP00000495099.1:p.Asn1684LysfsTer?
ENST00000642791.1:n.789dup
ENST00000642797.1:c.4994dup	ENSP00000493846.1:p.Asn1665LysfsTer?
ENST00000642936.1:c.5060dup	ENSP00000494514.1:p.Asn1687LysfsTer?
ENST00000643088.1:c.4985dup	ENSP00000494747.1:p.Asn1662LysfsTer?
ENST00000643426.1:n.2840dup
ENST00000643946.1:c.5117dup	ENSP00000495927.1:p.Asn1706LysfsTer?
ENST00000644043.1:c.5063dup	ENSP00000496262.1:p.Asn1688LysfsTer?
ENST00000644329.1:c.5078dup	ENSP00000496611.1:p.Asn1693LysfsTer?
ENST00000644335.1:c.4988dup	ENSP00000496317.1:p.Asn1663LysfsTer?
ENST00000644399.1:c.5113dup
ENST00000645024.1:n.3276dup
ENST00000646388.1:c.5186dup	ENSP00000495921.1:p.Asn1729LysfsTer?
ENST00000646634.1:n.4007dup
ENST00000646674.1:n.2444dup
ENST00000647042.1:n.2415dup
ENST00000647180.1:n.2305dup
ENST00000219476.7:c.5192dup	ENSP00000219476.3:p.Asn1731LysfsTer?
ENST00000350773.8:c.5123dup	ENSP00000344383.4:p.Asn1708LysfsTer?
ENST00000382538.10:c.4847dup	ENSP00000371978.6:p.Asn1616LysfsTer?
ENST00000401874.6:c.4991dup	ENSP00000384468.2:p.Asn1664LysfsTer?
ENST00000439117.6:c.*4359dup	ENSP00000406980.2:n.*4359dup
ENST00000439673.6:c.4883dup	ENSP00000399232.2:p.Asn1628LysfsTer?
ENST00000497886.5:n.2915dup
ENST00000568454.5:c.5024dup	ENSP00000454487.1:p.Asn1675LysfsTer?
ENST00000569110.1:c.1374dup
ENST00000569930.1:n.2307dup
NM_000548.3:c.5192dup , LRG_487t1:c.5192dup	NP_000539.2:p.Asn1731LysfsTer?
NM_001077183.1:c.4991dup	NP_001070651.1:p.Asn1664LysfsTer?
NM_001114382.1:c.5123dup	NP_001107854.1:p.Asn1708LysfsTer?
XM_005255529.3:c.5063dup	XP_005255586.2:p.Asn1688LysfsTer?
XM_005255531.3:c.4994dup	XP_005255588.2:p.Asn1665LysfsTer?
XM_011522636.1:c.5246dup	XP_011520938.1:p.Asn1749LysfsTer?
XM_011522637.1:c.5243dup	XP_011520939.1:p.Asn1748LysfsTer?
XM_011522638.1:c.5135dup	XP_011520940.1:p.Asn1712LysfsTer?
XM_011522639.1:c.5117dup	XP_011520941.1:p.Asn1706LysfsTer?
XM_011522640.1:c.5114dup	XP_011520942.1:p.Asn1705LysfsTer?
XM_011522641.1:c.4883dup	XP_011520943.1:p.Asn1628LysfsTer?
NM_000548.4:c.5192dup	NP_000539.2:p.Asn1731LysfsTer?
NM_001077183.2:c.4991dup	NP_001070651.1:p.Asn1664LysfsTer?
NM_001114382.2:c.5123dup	NP_001107854.1:p.Asn1708LysfsTer?
NM_001318827.1:c.4883dup	NP_001305756.1:p.Asn1628LysfsTer?
NM_001318829.1:c.4847dup	NP_001305758.1:p.Asn1616LysfsTer?
NM_001318831.1:c.4460dup	NP_001305760.1:p.Asn1487LysfsTer?
NM_001318832.1:c.5024dup	NP_001305761.1:p.Asn1675LysfsTer?
NM_001363528.1:c.4994dup	NP_001350457.1:p.Asn1665LysfsTer?
NM_021055.2:c.5063dup	NP_066399.2:p.Asn1688LysfsTer?
XM_005255531.4:c.4994dup	XP_005255588.2:p.Asn1665LysfsTer?
XM_011522636.2:c.5246dup	XP_011520938.1:p.Asn1749LysfsTer?
XM_011522637.2:c.5243dup	XP_011520939.1:p.Asn1748LysfsTer?
XM_011522638.2:c.5408dup	XP_011520940.2:p.Asn1803LysfsTer?
XM_011522639.2:c.5117dup	XP_011520941.1:p.Asn1706LysfsTer?
XM_011522640.2:c.5114dup	XP_011520942.1:p.Asn1705LysfsTer?
XM_017023615.1:c.5189dup	XP_016879104.1:p.Asn1730LysfsTer?
XM_017023616.1:c.5060dup	XP_016879105.1:p.Asn1687LysfsTer?
XM_017023617.1:c.5156dup	XP_016879106.1:p.Asn1719LysfsTer?
XM_017023618.1:c.3902dup	XP_016879107.1:p.Asn1301LysfsTer?
XM_024450413.1:c.5078dup	XP_024306181.1:p.Asn1693LysfsTer?
NM_000548.5:c.5192dup MANE Select	NP_000539.2:p.Asn1731LysfsTer?
NM_001370404.1:c.5060dup	NP_001357333.1:p.Asn1687LysfsTer?
NM_001370405.1:c.5051dup	NP_001357334.1:p.Asn1684LysfsTer?
NM_001077183.3:c.4991dup	NP_001070651.1:p.Asn1664LysfsTer?
NM_001114382.3:c.5123dup	NP_001107854.1:p.Asn1708LysfsTer?
NM_001318827.2:c.4883dup	NP_001305756.1:p.Asn1628LysfsTer?
NM_001318829.2:c.4847dup	NP_001305758.1:p.Asn1616LysfsTer?
NM_001318831.2:c.4460dup	NP_001305760.1:p.Asn1487LysfsTer?
NM_001318832.2:c.5024dup	NP_001305761.1:p.Asn1675LysfsTer?
NM_001363528.2:c.4994dup	NP_001350457.1:p.Asn1665LysfsTer?
NM_021055.3:c.5063dup	NP_066399.2:p.Asn1688LysfsTer?