Canonical Allele Identifier: CA492960493

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2060672C>G , CM000678.2:g.2060672C>G	GRCh38
NC_000016.9:g.2110673C>G , CM000678.1:g.2110673C>G	GRCh37
NC_000016.8:g.2050674C>G	NCBI36
NG_005895.1:g.16367C>G , LRG_487:g.16367C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.978C>G MANE Select	NP_000539.2:p.Ala326=
ENST00000219476.9:c.978C>G MANE Select	ENSP00000219476.3:p.Ala326=
NM_000548.3:c.978C>G , LRG_487t1:c.978C>G	NP_000539.2:p.Ala326=
NM_000548.4:c.978C>G	NP_000539.2:p.Ala326=
NM_001077183.1:c.978C>G	NP_001070651.1:p.Ala326=
NM_001077183.2:c.978C>G	NP_001070651.1:p.Ala326=
NM_001077183.3:c.978C>G	NP_001070651.1:p.Ala326=
NM_001114382.1:c.978C>G	NP_001107854.1:p.Ala326=
NM_001114382.2:c.978C>G	NP_001107854.1:p.Ala326=
NM_001114382.3:c.978C>G	NP_001107854.1:p.Ala326=
NM_001318827.1:c.867C>G	NP_001305756.1:p.Ala289=
NM_001318827.2:c.867C>G	NP_001305756.1:p.Ala289=
NM_001318829.1:c.831C>G	NP_001305758.1:p.Ala277=
NM_001318829.2:c.831C>G	NP_001305758.1:p.Ala277=
NM_001318831.1:c.378C>G	NP_001305760.1:p.Ala126=
NM_001318831.2:c.378C>G	NP_001305760.1:p.Ala126=
NM_001318832.1:c.1011C>G	NP_001305761.1:p.Ala337=
NM_001318832.2:c.1011C>G	NP_001305761.1:p.Ala337=
NM_001363528.1:c.978C>G	NP_001350457.1:p.Ala326=
NM_001363528.2:c.978C>G	NP_001350457.1:p.Ala326=
NM_001370404.1:c.978C>G	NP_001357333.1:p.Ala326=
NM_001370405.1:c.978C>G	NP_001357334.1:p.Ala326=
NM_021055.2:c.978C>G	NP_066399.2:p.Ala326=
NM_021055.3:c.978C>G	NP_066399.2:p.Ala326=
ENST00000219476.7:c.978C>G	ENSP00000219476.3:p.Ala326=
ENST00000350773.8:c.978C>G	ENSP00000344383.4:p.Ala326=
ENST00000350773.9:c.978C>G	ENSP00000344383.4:p.Ala326=
ENST00000382538.10:c.831C>G	ENSP00000371978.6:p.Ala277=
ENST00000401874.6:c.978C>G	ENSP00000384468.2:p.Ala326=
ENST00000401874.7:c.978C>G	ENSP00000384468.2:p.Ala326=
ENST00000439117.6:c.*277C>G	ENSP00000406980.2:n.*277C>G
ENST00000439673.6:c.867C>G	ENSP00000399232.2:p.Ala289=
ENST00000467949.1:c.411+1799C>G	ENSP00000454997.1:n.411+1799C>G
ENST00000467949.2:n.427+1799C>G
ENST00000568454.5:c.1011C>G	ENSP00000454487.1:p.Ala337=
ENST00000568454.6:c.1011C>G	ENSP00000454487.1:p.Ala337=
ENST00000568566.6:c.978C>G	ENSP00000455997.2:p.Ala326=
ENST00000642206.2:c.1023C>G	ENSP00000495146.2:p.Ala341=
ENST00000642365.2:c.978C>G	ENSP00000495459.2:p.Ala326=
ENST00000642561.1:c.978C>G	ENSP00000495099.1:p.Ala326=
ENST00000642797.1:c.978C>G	ENSP00000493846.1:p.Ala326=
ENST00000642812.1:n.1023C>G
ENST00000642936.1:c.978C>G	ENSP00000494514.1:p.Ala326=
ENST00000643088.1:c.978C>G	ENSP00000494747.1:p.Ala326=
ENST00000643149.1:n.1931C>G
ENST00000643298.1:c.*480C>G	ENSP00000494393.1:n.*480C>G
ENST00000643745.1:c.978C>G	ENSP00000495948.1:p.Ala326=
ENST00000643946.1:c.978C>G	ENSP00000495927.1:p.Ala326=
ENST00000644043.1:c.978C>G	ENSP00000496262.1:p.Ala326=
ENST00000644135.1:c.978C>G	ENSP00000495644.1:p.Ala326=
ENST00000644222.1:n.1065C>G
ENST00000644329.1:c.978C>G	ENSP00000496611.1:p.Ala326=
ENST00000644335.1:c.978C>G	ENSP00000496317.1:p.Ala326=
ENST00000644399.1:c.971C>G
ENST00000644417.2:c.*415C>G	ENSP00000493912.2:n.*415C>G
ENST00000644665.1:n.1095C>G
ENST00000645591.1:n.1949C>G
ENST00000646388.1:c.978C>G	ENSP00000495921.1:p.Ala326=
ENST00000646464.2:c.*583C>G	ENSP00000496610.2:n.*583C>G
ENST00000646823.1:n.1392C>G
ENST00000647234.1:n.1679C>G
ENST00000647242.1:n.1646C>G
XM_005255529.3:c.978C>G	XP_005255586.2:p.Ala326=
XM_005255531.3:c.978C>G	XP_005255588.2:p.Ala326=
XM_005255531.4:c.978C>G	XP_005255588.2:p.Ala326=
XM_011522636.1:c.978C>G	XP_011520938.1:p.Ala326=
XM_011522636.2:c.978C>G	XP_011520938.1:p.Ala326=
XM_011522637.1:c.978C>G	XP_011520939.1:p.Ala326=
XM_011522637.2:c.978C>G	XP_011520939.1:p.Ala326=
XM_011522638.1:c.867C>G	XP_011520940.1:p.Ala289=
XM_011522638.2:c.1140C>G	XP_011520940.2:p.Ala380=
XM_011522639.1:c.978C>G	XP_011520941.1:p.Ala326=
XM_011522639.2:c.978C>G	XP_011520941.1:p.Ala326=
XM_011522640.1:c.978C>G	XP_011520942.1:p.Ala326=
XM_011522640.2:c.978C>G	XP_011520942.1:p.Ala326=
XM_011522641.1:c.867C>G	XP_011520943.1:p.Ala289=
XM_017023615.1:c.978C>G	XP_016879104.1:p.Ala326=
XM_017023616.1:c.978C>G	XP_016879105.1:p.Ala326=
XM_017023617.1:c.1140C>G	XP_016879106.1:p.Ala380=
XM_017023618.1:c.-454C>G	XP_016879107.1:n.-454C>G
XM_024450413.1:c.978C>G	XP_024306181.1:p.Ala326=