Canonical Allele Identifier: CA394288732

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2080212T>C , CM000678.2:g.2080212T>C	GRCh38
NC_000016.9:g.2130213T>C , CM000678.1:g.2130213T>C	GRCh37
NC_000016.8:g.2070214T>C	NCBI36
NG_005895.1:g.35907T>C , LRG_487:g.35907T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.3445T>C MANE Select	NP_000539.2:p.Phe1149Leu
ENST00000219476.9:c.3445T>C MANE Select	ENSP00000219476.3:p.Phe1149Leu
NM_000548.3:c.3445T>C , LRG_487t1:c.3445T>C	NP_000539.2:p.Phe1149Leu
NM_000548.4:c.3445T>C	NP_000539.2:p.Phe1149Leu
NM_001077183.1:c.3313T>C	NP_001070651.1:p.Phe1105Leu
NM_001077183.2:c.3313T>C	NP_001070651.1:p.Phe1105Leu
NM_001077183.3:c.3313T>C	NP_001070651.1:p.Phe1105Leu
NM_001114382.1:c.3445T>C	NP_001107854.1:p.Phe1149Leu
NM_001114382.2:c.3445T>C	NP_001107854.1:p.Phe1149Leu
NM_001114382.3:c.3445T>C	NP_001107854.1:p.Phe1149Leu
NM_001318827.1:c.3205T>C	NP_001305756.1:p.Phe1069Leu
NM_001318827.2:c.3205T>C	NP_001305756.1:p.Phe1069Leu
NM_001318829.1:c.3169T>C	NP_001305758.1:p.Phe1057Leu
NM_001318829.2:c.3169T>C	NP_001305758.1:p.Phe1057Leu
NM_001318831.1:c.2713T>C	NP_001305760.1:p.Phe905Leu
NM_001318831.2:c.2713T>C	NP_001305760.1:p.Phe905Leu
NM_001318832.1:c.3346T>C	NP_001305761.1:p.Phe1116Leu
NM_001318832.2:c.3346T>C	NP_001305761.1:p.Phe1116Leu
NM_001363528.1:c.3316T>C	NP_001350457.1:p.Phe1106Leu
NM_001363528.2:c.3316T>C	NP_001350457.1:p.Phe1106Leu
NM_001370404.1:c.3313T>C	NP_001357333.1:p.Phe1105Leu
NM_001370405.1:c.3316T>C	NP_001357334.1:p.Phe1106Leu
NM_021055.2:c.3316T>C	NP_066399.2:p.Phe1106Leu
NM_021055.3:c.3316T>C	NP_066399.2:p.Phe1106Leu
ENST00000219476.7:c.3445T>C	ENSP00000219476.3:p.Phe1149Leu
ENST00000350773.8:c.3445T>C	ENSP00000344383.4:p.Phe1149Leu
ENST00000350773.9:c.3445T>C	ENSP00000344383.4:p.Phe1149Leu
ENST00000382538.10:c.3169T>C	ENSP00000371978.6:p.Phe1057Leu
ENST00000401874.6:c.3313T>C	ENSP00000384468.2:p.Phe1105Leu
ENST00000401874.7:c.3313T>C	ENSP00000384468.2:p.Phe1105Leu
ENST00000439117.6:c.*2612T>C	ENSP00000406980.2:n.*2612T>C
ENST00000439673.6:c.3205T>C	ENSP00000399232.2:p.Phe1069Leu
ENST00000497886.5:n.1272T>C
ENST00000568454.5:c.3346T>C	ENSP00000454487.1:p.Phe1116Leu
ENST00000568454.6:c.3346T>C	ENSP00000454487.1:p.Phe1116Leu
ENST00000568566.6:c.*1863T>C	ENSP00000455997.2:n.*1863T>C
ENST00000642206.2:c.3361T>C	ENSP00000495146.2:p.Phe1121Leu
ENST00000642365.1:c.2099T>C
ENST00000642365.2:c.3442T>C	ENSP00000495459.2:p.Phe1148Leu
ENST00000642561.1:c.3316T>C	ENSP00000495099.1:p.Phe1106Leu
ENST00000642797.1:c.3316T>C	ENSP00000493846.1:p.Phe1106Leu
ENST00000642936.1:c.3313T>C	ENSP00000494514.1:p.Phe1105Leu
ENST00000643088.1:c.3313T>C	ENSP00000494747.1:p.Phe1105Leu
ENST00000643946.1:c.3445T>C	ENSP00000495927.1:p.Phe1149Leu
ENST00000644043.1:c.3316T>C	ENSP00000496262.1:p.Phe1106Leu
ENST00000644329.1:c.3313T>C	ENSP00000496611.1:p.Phe1105Leu
ENST00000644335.1:c.3316T>C	ENSP00000496317.1:p.Phe1106Leu
ENST00000644399.1:c.3435T>C
ENST00000644417.2:c.*3894T>C	ENSP00000493912.2:n.*3894T>C
ENST00000644722.1:n.591T>C
ENST00000645024.1:n.1598T>C
ENST00000646388.1:c.3445T>C	ENSP00000495921.1:p.Phe1149Leu
ENST00000646464.2:c.*4367T>C	ENSP00000496610.2:n.*4367T>C
ENST00000646634.1:n.2329T>C
ENST00000646674.1:n.60T>C
ENST00000647042.1:n.737T>C
XM_005255529.3:c.3316T>C	XP_005255586.2:p.Phe1106Leu
XM_005255531.3:c.3316T>C	XP_005255588.2:p.Phe1106Leu
XM_005255531.4:c.3316T>C	XP_005255588.2:p.Phe1106Leu
XM_011522636.1:c.3445T>C	XP_011520938.1:p.Phe1149Leu
XM_011522636.2:c.3445T>C	XP_011520938.1:p.Phe1149Leu
XM_011522637.1:c.3442T>C	XP_011520939.1:p.Phe1148Leu
XM_011522637.2:c.3442T>C	XP_011520939.1:p.Phe1148Leu
XM_011522638.1:c.3334T>C	XP_011520940.1:p.Phe1112Leu
XM_011522638.2:c.3607T>C	XP_011520940.2:p.Phe1203Leu
XM_011522639.1:c.3316T>C	XP_011520941.1:p.Phe1106Leu
XM_011522639.2:c.3316T>C	XP_011520941.1:p.Phe1106Leu
XM_011522640.1:c.3313T>C	XP_011520942.1:p.Phe1105Leu
XM_011522640.2:c.3313T>C	XP_011520942.1:p.Phe1105Leu
XM_011522641.1:c.3205T>C	XP_011520943.1:p.Phe1069Leu
XM_017023615.1:c.3442T>C	XP_016879104.1:p.Phe1148Leu
XM_017023616.1:c.3313T>C	XP_016879105.1:p.Phe1105Leu
XM_017023617.1:c.3478T>C	XP_016879106.1:p.Phe1160Leu
XM_017023618.1:c.2101T>C	XP_016879107.1:p.Phe701Leu
XM_024450413.1:c.3313T>C	XP_024306181.1:p.Phe1105Leu