Canonical Allele Identifier: CA394304383

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135241T>G (hg19) ; chr16:g.2085240T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085240T>G , CM000678.2:g.2085240T>G	GRCh38
NC_000016.9:g.2135241T>G , CM000678.1:g.2135241T>G	GRCh37
NC_000016.8:g.2075242T>G	NCBI36
NG_005895.1:g.40935T>G , LRG_487:g.40935T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2929T>G	ENSP00000455997.2:n.*2929T>G
ENST00000642206.2:c.4427T>G	ENSP00000495146.2:p.Phe1476Cys
ENST00000642365.2:c.4577T>G	ENSP00000495459.2:p.Phe1526Cys
ENST00000644417.2:c.*4960T>G	ENSP00000493912.2:n.*4960T>G
ENST00000646464.2:c.*7329T>G	ENSP00000496610.2:n.*7329T>G
ENST00000219476.9:c.4580T>G MANE Select	ENSP00000219476.3:p.Phe1527Cys
ENST00000350773.9:c.4511T>G	ENSP00000344383.4:p.Phe1504Cys
ENST00000401874.7:c.4379T>G	ENSP00000384468.2:p.Phe1460Cys
ENST00000568454.6:c.4412T>G	ENSP00000454487.1:p.Phe1471Cys
ENST00000569110.2:c.803T>G
ENST00000569930.2:n.2462T>G
ENST00000642365.1:c.3234T>G
ENST00000642561.1:c.4451T>G	ENSP00000495099.1:p.Phe1484Cys
ENST00000642728.1:n.762T>G
ENST00000642791.1:n.177T>G
ENST00000642797.1:c.4382T>G	ENSP00000493846.1:p.Phe1461Cys
ENST00000642936.1:c.4448T>G	ENSP00000494514.1:p.Phe1483Cys
ENST00000643088.1:c.4373T>G	ENSP00000494747.1:p.Phe1458Cys
ENST00000643177.1:n.594T>G
ENST00000643426.1:n.2228T>G
ENST00000643946.1:c.4505T>G	ENSP00000495927.1:p.Phe1502Cys
ENST00000644043.1:c.4451T>G	ENSP00000496262.1:p.Phe1484Cys
ENST00000644278.1:n.62T>G
ENST00000644329.1:c.4379T>G	ENSP00000496611.1:p.Phe1460Cys
ENST00000644335.1:c.4376T>G	ENSP00000496317.1:p.Phe1459Cys
ENST00000644399.1:c.4501T>G
ENST00000645024.1:n.2664T>G
ENST00000646388.1:c.4574T>G	ENSP00000495921.1:p.Phe1525Cys
ENST00000646634.1:n.3395T>G
ENST00000646674.1:n.1832T>G
ENST00000647042.1:n.1803T>G
ENST00000647180.1:n.1693T>G
ENST00000219476.7:c.4580T>G	ENSP00000219476.3:p.Phe1527Cys
ENST00000350773.8:c.4511T>G	ENSP00000344383.4:p.Phe1504Cys
ENST00000382538.10:c.4235T>G	ENSP00000371978.6:p.Phe1412Cys
ENST00000401874.6:c.4379T>G	ENSP00000384468.2:p.Phe1460Cys
ENST00000439117.6:c.*3747T>G	ENSP00000406980.2:n.*3747T>G
ENST00000439673.6:c.4271T>G	ENSP00000399232.2:p.Phe1424Cys
ENST00000497886.5:n.2338T>G
ENST00000568454.5:c.4412T>G	ENSP00000454487.1:p.Phe1471Cys
ENST00000569110.1:c.762T>G
ENST00000569930.1:n.1695T>G
NM_000548.3:c.4580T>G , LRG_487t1:c.4580T>G	NP_000539.2:p.Phe1527Cys
NM_001077183.1:c.4379T>G	NP_001070651.1:p.Phe1460Cys
NM_001114382.1:c.4511T>G	NP_001107854.1:p.Phe1504Cys
XM_005255529.3:c.4451T>G	XP_005255586.2:p.Phe1484Cys
XM_005255531.3:c.4382T>G	XP_005255588.2:p.Phe1461Cys
XM_011522636.1:c.4634T>G	XP_011520938.1:p.Phe1545Cys
XM_011522637.1:c.4631T>G	XP_011520939.1:p.Phe1544Cys
XM_011522638.1:c.4523T>G	XP_011520940.1:p.Phe1508Cys
XM_011522639.1:c.4505T>G	XP_011520941.1:p.Phe1502Cys
XM_011522640.1:c.4502T>G	XP_011520942.1:p.Phe1501Cys
XM_011522641.1:c.4271T>G	XP_011520943.1:p.Phe1424Cys
NM_000548.4:c.4580T>G	NP_000539.2:p.Phe1527Cys
NM_001077183.2:c.4379T>G	NP_001070651.1:p.Phe1460Cys
NM_001114382.2:c.4511T>G	NP_001107854.1:p.Phe1504Cys
NM_001318827.1:c.4271T>G	NP_001305756.1:p.Phe1424Cys
NM_001318829.1:c.4235T>G	NP_001305758.1:p.Phe1412Cys
NM_001318831.1:c.3848T>G	NP_001305760.1:p.Phe1283Cys
NM_001318832.1:c.4412T>G	NP_001305761.1:p.Phe1471Cys
NM_001363528.1:c.4382T>G	NP_001350457.1:p.Phe1461Cys
NM_021055.2:c.4451T>G	NP_066399.2:p.Phe1484Cys
XM_005255531.4:c.4382T>G	XP_005255588.2:p.Phe1461Cys
XM_011522636.2:c.4634T>G	XP_011520938.1:p.Phe1545Cys
XM_011522637.2:c.4631T>G	XP_011520939.1:p.Phe1544Cys
XM_011522638.2:c.4796T>G	XP_011520940.2:p.Phe1599Cys
XM_011522639.2:c.4505T>G	XP_011520941.1:p.Phe1502Cys
XM_011522640.2:c.4502T>G	XP_011520942.1:p.Phe1501Cys
XM_017023615.1:c.4577T>G	XP_016879104.1:p.Phe1526Cys
XM_017023616.1:c.4448T>G	XP_016879105.1:p.Phe1483Cys
XM_017023617.1:c.4544T>G	XP_016879106.1:p.Phe1515Cys
XM_017023618.1:c.3290T>G	XP_016879107.1:p.Phe1097Cys
XM_024450413.1:c.4379T>G	XP_024306181.1:p.Phe1460Cys
NM_000548.5:c.4580T>G MANE Select	NP_000539.2:p.Phe1527Cys
NM_001370404.1:c.4448T>G	NP_001357333.1:p.Phe1483Cys
NM_001370405.1:c.4451T>G	NP_001357334.1:p.Phe1484Cys
NM_001077183.3:c.4379T>G	NP_001070651.1:p.Phe1460Cys
NM_001114382.3:c.4511T>G	NP_001107854.1:p.Phe1504Cys
NM_001318827.2:c.4271T>G	NP_001305756.1:p.Phe1424Cys
NM_001318829.2:c.4235T>G	NP_001305758.1:p.Phe1412Cys
NM_001318831.2:c.3848T>G	NP_001305760.1:p.Phe1283Cys
NM_001318832.2:c.4412T>G	NP_001305761.1:p.Phe1471Cys
NM_001363528.2:c.4382T>G	NP_001350457.1:p.Phe1461Cys
NM_021055.3:c.4451T>G	NP_066399.2:p.Phe1484Cys