Canonical Allele Identifier: CA046476

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079664T>C , CM000678.2:g.2079664T>C	GRCh38
NC_000016.9:g.2129665T>C , CM000678.1:g.2129665T>C	GRCh37
NC_000016.8:g.2069666T>C	NCBI36
NG_005895.1:g.35359T>C , LRG_487:g.35359T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.3392T>C MANE Select	NP_000539.2:p.Met1131Thr
ENST00000219476.9:c.3392T>C MANE Select	ENSP00000219476.3:p.Met1131Thr
NM_000548.3:c.3392T>C , LRG_487t1:c.3392T>C	NP_000539.2:p.Met1131Thr
NM_000548.4:c.3392T>C	NP_000539.2:p.Met1131Thr
NM_001077183.1:c.3260T>C	NP_001070651.1:p.Met1087Thr
NM_001077183.2:c.3260T>C	NP_001070651.1:p.Met1087Thr
NM_001077183.3:c.3260T>C	NP_001070651.1:p.Met1087Thr
NM_001114382.1:c.3392T>C	NP_001107854.1:p.Met1131Thr
NM_001114382.2:c.3392T>C	NP_001107854.1:p.Met1131Thr
NM_001114382.3:c.3392T>C	NP_001107854.1:p.Met1131Thr
NM_001318827.1:c.3152T>C	NP_001305756.1:p.Met1051Thr
NM_001318827.2:c.3152T>C	NP_001305756.1:p.Met1051Thr
NM_001318829.1:c.3116T>C	NP_001305758.1:p.Met1039Thr
NM_001318829.2:c.3116T>C	NP_001305758.1:p.Met1039Thr
NM_001318831.1:c.2660T>C	NP_001305760.1:p.Met887Thr
NM_001318831.2:c.2660T>C	NP_001305760.1:p.Met887Thr
NM_001318832.1:c.3293T>C	NP_001305761.1:p.Met1098Thr
NM_001318832.2:c.3293T>C	NP_001305761.1:p.Met1098Thr
NM_001363528.1:c.3263T>C	NP_001350457.1:p.Met1088Thr
NM_001363528.2:c.3263T>C	NP_001350457.1:p.Met1088Thr
NM_001370404.1:c.3260T>C	NP_001357333.1:p.Met1087Thr
NM_001370405.1:c.3263T>C	NP_001357334.1:p.Met1088Thr
NM_021055.2:c.3263T>C	NP_066399.2:p.Met1088Thr
NM_021055.3:c.3263T>C	NP_066399.2:p.Met1088Thr
ENST00000219476.7:c.3392T>C	ENSP00000219476.3:p.Met1131Thr
ENST00000350773.8:c.3392T>C	ENSP00000344383.4:p.Met1131Thr
ENST00000350773.9:c.3392T>C	ENSP00000344383.4:p.Met1131Thr
ENST00000382538.10:c.3116T>C	ENSP00000371978.6:p.Met1039Thr
ENST00000401874.6:c.3260T>C	ENSP00000384468.2:p.Met1087Thr
ENST00000401874.7:c.3260T>C	ENSP00000384468.2:p.Met1087Thr
ENST00000439117.6:c.*2559T>C	ENSP00000406980.2:n.*2559T>C
ENST00000439673.6:c.3152T>C	ENSP00000399232.2:p.Met1051Thr
ENST00000497886.5:n.1219T>C
ENST00000568366.5:n.749T>C
ENST00000568454.5:c.3293T>C	ENSP00000454487.1:p.Met1098Thr
ENST00000568454.6:c.3293T>C	ENSP00000454487.1:p.Met1098Thr
ENST00000568566.6:c.*1810T>C	ENSP00000455997.2:n.*1810T>C
ENST00000642206.2:c.3308T>C	ENSP00000495146.2:p.Met1103Thr
ENST00000642365.1:c.2046T>C
ENST00000642365.2:c.3389T>C	ENSP00000495459.2:p.Met1130Thr
ENST00000642561.1:c.3263T>C	ENSP00000495099.1:p.Met1088Thr
ENST00000642797.1:c.3263T>C	ENSP00000493846.1:p.Met1088Thr
ENST00000642936.1:c.3260T>C	ENSP00000494514.1:p.Met1087Thr
ENST00000643088.1:c.3260T>C	ENSP00000494747.1:p.Met1087Thr
ENST00000643946.1:c.3392T>C	ENSP00000495927.1:p.Met1131Thr
ENST00000644043.1:c.3263T>C	ENSP00000496262.1:p.Met1088Thr
ENST00000644329.1:c.3260T>C	ENSP00000496611.1:p.Met1087Thr
ENST00000644335.1:c.3263T>C	ENSP00000496317.1:p.Met1088Thr
ENST00000644399.1:c.3382T>C
ENST00000644417.2:c.*3841T>C	ENSP00000493912.2:n.*3841T>C
ENST00000644722.1:n.538T>C
ENST00000645024.1:n.1545T>C
ENST00000646388.1:c.3392T>C	ENSP00000495921.1:p.Met1131Thr
ENST00000646464.2:c.*4314T>C	ENSP00000496610.2:n.*4314T>C
ENST00000646634.1:n.2276T>C
ENST00000646674.1:n.7T>C
ENST00000647042.1:n.684T>C
XM_005255529.3:c.3263T>C	XP_005255586.2:p.Met1088Thr
XM_005255531.3:c.3263T>C	XP_005255588.2:p.Met1088Thr
XM_005255531.4:c.3263T>C	XP_005255588.2:p.Met1088Thr
XM_011522636.1:c.3392T>C	XP_011520938.1:p.Met1131Thr
XM_011522636.2:c.3392T>C	XP_011520938.1:p.Met1131Thr
XM_011522637.1:c.3389T>C	XP_011520939.1:p.Met1130Thr
XM_011522637.2:c.3389T>C	XP_011520939.1:p.Met1130Thr
XM_011522638.1:c.3281T>C	XP_011520940.1:p.Met1094Thr
XM_011522638.2:c.3554T>C	XP_011520940.2:p.Met1185Thr
XM_011522639.1:c.3263T>C	XP_011520941.1:p.Met1088Thr
XM_011522639.2:c.3263T>C	XP_011520941.1:p.Met1088Thr
XM_011522640.1:c.3260T>C	XP_011520942.1:p.Met1087Thr
XM_011522640.2:c.3260T>C	XP_011520942.1:p.Met1087Thr
XM_011522641.1:c.3152T>C	XP_011520943.1:p.Met1051Thr
XM_017023615.1:c.3389T>C	XP_016879104.1:p.Met1130Thr
XM_017023616.1:c.3260T>C	XP_016879105.1:p.Met1087Thr
XM_017023617.1:c.3425T>C	XP_016879106.1:p.Met1142Thr
XM_017023618.1:c.2048T>C	XP_016879107.1:p.Met683Thr
XM_024450413.1:c.3260T>C	XP_024306181.1:p.Met1087Thr