Canonical Allele Identifier: CA2202038237

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081670A= , CM000678.2:g.2081670A=	GRCh38
NC_000016.9:g.2131671A= , CM000678.1:g.2131671A=	GRCh37
NC_000016.8:g.2071672A=	NCBI36
NG_005895.1:g.37365A= , LRG_487:g.37365A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2104A=	ENSP00000455997.2:n.*2104A=
ENST00000642206.2:c.3602A=	ENSP00000495146.2:p.Gln1201=
ENST00000642365.2:c.3683A=	ENSP00000495459.2:p.Gln1228=
ENST00000644417.2:c.*4135A=	ENSP00000493912.2:n.*4135A=
ENST00000646464.2:c.*4608A=	ENSP00000496610.2:n.*4608A=
ENST00000219476.9:c.3686A= MANE Select	ENSP00000219476.3:p.Gln1229=
ENST00000350773.9:c.3686A=	ENSP00000344383.4:p.Gln1229=
ENST00000401874.7:c.3554A=	ENSP00000384468.2:p.Gln1185=
ENST00000568454.6:c.3587A=	ENSP00000454487.1:p.Gln1196=
ENST00000642365.1:c.2340A=
ENST00000642561.1:c.3557A=	ENSP00000495099.1:p.Gln1186=
ENST00000642797.1:c.3557A=	ENSP00000493846.1:p.Gln1186=
ENST00000642936.1:c.3554A=	ENSP00000494514.1:p.Gln1185=
ENST00000643088.1:c.3554A=	ENSP00000494747.1:p.Gln1185=
ENST00000643426.1:n.1334A=
ENST00000643533.1:n.196A=
ENST00000643946.1:c.3686A=	ENSP00000495927.1:p.Gln1229=
ENST00000644043.1:c.3557A=	ENSP00000496262.1:p.Gln1186=
ENST00000644329.1:c.3554A=	ENSP00000496611.1:p.Gln1185=
ENST00000644335.1:c.3557A=	ENSP00000496317.1:p.Gln1186=
ENST00000644399.1:c.3676A=
ENST00000644722.1:n.832A=
ENST00000645024.1:n.1839A=
ENST00000646388.1:c.3686A=	ENSP00000495921.1:p.Gln1229=
ENST00000646634.1:n.2570A=
ENST00000646674.1:n.301A=
ENST00000647042.1:n.978A=
ENST00000647180.1:n.166A=
ENST00000219476.7:c.3686A=	ENSP00000219476.3:p.Gln1229=
ENST00000350773.8:c.3686A=	ENSP00000344383.4:p.Gln1229=
ENST00000382538.10:c.3410A=	ENSP00000371978.6:p.Gln1137=
ENST00000401874.6:c.3554A=	ENSP00000384468.2:p.Gln1185=
ENST00000439117.6:c.*2853A=	ENSP00000406980.2:n.*2853A=
ENST00000439673.6:c.3446A=	ENSP00000399232.2:p.Gln1149=
ENST00000497886.5:n.1513A=
ENST00000568454.5:c.3587A=	ENSP00000454487.1:p.Gln1196=
NM_000548.3:c.3686A= , LRG_487t1:c.3686A=	NP_000539.2:p.Gln1229=
NM_001077183.1:c.3554A=	NP_001070651.1:p.Gln1185=
NM_001114382.1:c.3686A=	NP_001107854.1:p.Gln1229=
XM_005255529.3:c.3557A=	XP_005255586.2:p.Gln1186=
XM_005255531.3:c.3557A=	XP_005255588.2:p.Gln1186=
XM_011522636.1:c.3686A=	XP_011520938.1:p.Gln1229=
XM_011522637.1:c.3683A=	XP_011520939.1:p.Gln1228=
XM_011522638.1:c.3575A=	XP_011520940.1:p.Gln1192=
XM_011522639.1:c.3557A=	XP_011520941.1:p.Gln1186=
XM_011522640.1:c.3554A=	XP_011520942.1:p.Gln1185=
XM_011522641.1:c.3446A=	XP_011520943.1:p.Gln1149=
NM_000548.4:c.3686A=	NP_000539.2:p.Gln1229=
NM_001077183.2:c.3554A=	NP_001070651.1:p.Gln1185=
NM_001114382.2:c.3686A=	NP_001107854.1:p.Gln1229=
NM_001318827.1:c.3446A=	NP_001305756.1:p.Gln1149=
NM_001318829.1:c.3410A=	NP_001305758.1:p.Gln1137=
NM_001318831.1:c.2954A=	NP_001305760.1:p.Gln985=
NM_001318832.1:c.3587A=	NP_001305761.1:p.Gln1196=
NM_001363528.1:c.3557A=	NP_001350457.1:p.Gln1186=
NM_021055.2:c.3557A=	NP_066399.2:p.Gln1186=
XM_005255531.4:c.3557A=	XP_005255588.2:p.Gln1186=
XM_011522636.2:c.3686A=	XP_011520938.1:p.Gln1229=
XM_011522637.2:c.3683A=	XP_011520939.1:p.Gln1228=
XM_011522638.2:c.3848A=	XP_011520940.2:p.Gln1283=
XM_011522639.2:c.3557A=	XP_011520941.1:p.Gln1186=
XM_011522640.2:c.3554A=	XP_011520942.1:p.Gln1185=
XM_017023615.1:c.3683A=	XP_016879104.1:p.Gln1228=
XM_017023616.1:c.3554A=	XP_016879105.1:p.Gln1185=
XM_017023617.1:c.3719A=	XP_016879106.1:p.Gln1240=
XM_017023618.1:c.2342A=	XP_016879107.1:p.Gln781=
XM_024450413.1:c.3554A=	XP_024306181.1:p.Gln1185=
NM_000548.5:c.3686A= MANE Select	NP_000539.2:p.Gln1229=
NM_001370404.1:c.3554A=	NP_001357333.1:p.Gln1185=
NM_001370405.1:c.3557A=	NP_001357334.1:p.Gln1186=
NM_001077183.3:c.3554A=	NP_001070651.1:p.Gln1185=
NM_001114382.3:c.3686A=	NP_001107854.1:p.Gln1229=
NM_001318827.2:c.3446A=	NP_001305756.1:p.Gln1149=
NM_001318829.2:c.3410A=	NP_001305758.1:p.Gln1137=
NM_001318831.2:c.2954A=	NP_001305760.1:p.Gln985=
NM_001318832.2:c.3587A=	NP_001305761.1:p.Gln1196=
NM_001363528.2:c.3557A=	NP_001350457.1:p.Gln1186=
NM_021055.3:c.3557A=	NP_066399.2:p.Gln1186=