Canonical Allele Identifier: CA394304994

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135308T>G (hg19) ; chr16:g.2085307T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085307T>G , CM000678.2:g.2085307T>G	GRCh38
NC_000016.9:g.2135308T>G , CM000678.1:g.2135308T>G	GRCh37
NC_000016.8:g.2075309T>G	NCBI36
NG_005895.1:g.41002T>G , LRG_487:g.41002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2996T>G	ENSP00000455997.2:n.*2996T>G
ENST00000642206.2:c.4494T>G	ENSP00000495146.2:p.Tyr1498Ter
ENST00000642365.2:c.4644T>G	ENSP00000495459.2:p.Tyr1548Ter
ENST00000644417.2:c.*5027T>G	ENSP00000493912.2:n.*5027T>G
ENST00000646464.2:c.*7396T>G	ENSP00000496610.2:n.*7396T>G
ENST00000219476.9:c.4647T>G MANE Select	ENSP00000219476.3:p.Tyr1549Ter
ENST00000350773.9:c.4578T>G	ENSP00000344383.4:p.Tyr1526Ter
ENST00000401874.7:c.4446T>G	ENSP00000384468.2:p.Tyr1482Ter
ENST00000568454.6:c.4479T>G	ENSP00000454487.1:p.Tyr1493Ter
ENST00000569110.2:c.870T>G
ENST00000569930.2:n.2529T>G
ENST00000642365.1:c.3301T>G
ENST00000642561.1:c.4518T>G	ENSP00000495099.1:p.Tyr1506Ter
ENST00000642728.1:n.829T>G
ENST00000642791.1:n.244T>G
ENST00000642797.1:c.4449T>G	ENSP00000493846.1:p.Tyr1483Ter
ENST00000642936.1:c.4515T>G	ENSP00000494514.1:p.Tyr1505Ter
ENST00000643088.1:c.4440T>G	ENSP00000494747.1:p.Tyr1480Ter
ENST00000643177.1:n.661T>G
ENST00000643426.1:n.2295T>G
ENST00000643946.1:c.4572T>G	ENSP00000495927.1:p.Tyr1524Ter
ENST00000644043.1:c.4518T>G	ENSP00000496262.1:p.Tyr1506Ter
ENST00000644278.1:n.129T>G
ENST00000644329.1:c.4446T>G	ENSP00000496611.1:p.Tyr1482Ter
ENST00000644335.1:c.4443T>G	ENSP00000496317.1:p.Tyr1481Ter
ENST00000644399.1:c.4568T>G
ENST00000645024.1:n.2731T>G
ENST00000646388.1:c.4641T>G	ENSP00000495921.1:p.Tyr1547Ter
ENST00000646634.1:n.3462T>G
ENST00000646674.1:n.1899T>G
ENST00000647042.1:n.1870T>G
ENST00000647180.1:n.1760T>G
ENST00000219476.7:c.4647T>G	ENSP00000219476.3:p.Tyr1549Ter
ENST00000350773.8:c.4578T>G	ENSP00000344383.4:p.Tyr1526Ter
ENST00000382538.10:c.4302T>G	ENSP00000371978.6:p.Tyr1434Ter
ENST00000401874.6:c.4446T>G	ENSP00000384468.2:p.Tyr1482Ter
ENST00000439117.6:c.*3814T>G	ENSP00000406980.2:n.*3814T>G
ENST00000439673.6:c.4338T>G	ENSP00000399232.2:p.Tyr1446Ter
ENST00000497886.5:n.2405T>G
ENST00000568454.5:c.4479T>G	ENSP00000454487.1:p.Tyr1493Ter
ENST00000569110.1:c.829T>G
ENST00000569930.1:n.1762T>G
NM_000548.3:c.4647T>G , LRG_487t1:c.4647T>G	NP_000539.2:p.Tyr1549Ter
NM_001077183.1:c.4446T>G	NP_001070651.1:p.Tyr1482Ter
NM_001114382.1:c.4578T>G	NP_001107854.1:p.Tyr1526Ter
XM_005255529.3:c.4518T>G	XP_005255586.2:p.Tyr1506Ter
XM_005255531.3:c.4449T>G	XP_005255588.2:p.Tyr1483Ter
XM_011522636.1:c.4701T>G	XP_011520938.1:p.Tyr1567Ter
XM_011522637.1:c.4698T>G	XP_011520939.1:p.Tyr1566Ter
XM_011522638.1:c.4590T>G	XP_011520940.1:p.Tyr1530Ter
XM_011522639.1:c.4572T>G	XP_011520941.1:p.Tyr1524Ter
XM_011522640.1:c.4569T>G	XP_011520942.1:p.Tyr1523Ter
XM_011522641.1:c.4338T>G	XP_011520943.1:p.Tyr1446Ter
NM_000548.4:c.4647T>G	NP_000539.2:p.Tyr1549Ter
NM_001077183.2:c.4446T>G	NP_001070651.1:p.Tyr1482Ter
NM_001114382.2:c.4578T>G	NP_001107854.1:p.Tyr1526Ter
NM_001318827.1:c.4338T>G	NP_001305756.1:p.Tyr1446Ter
NM_001318829.1:c.4302T>G	NP_001305758.1:p.Tyr1434Ter
NM_001318831.1:c.3915T>G	NP_001305760.1:p.Tyr1305Ter
NM_001318832.1:c.4479T>G	NP_001305761.1:p.Tyr1493Ter
NM_001363528.1:c.4449T>G	NP_001350457.1:p.Tyr1483Ter
NM_021055.2:c.4518T>G	NP_066399.2:p.Tyr1506Ter
XM_005255531.4:c.4449T>G	XP_005255588.2:p.Tyr1483Ter
XM_011522636.2:c.4701T>G	XP_011520938.1:p.Tyr1567Ter
XM_011522637.2:c.4698T>G	XP_011520939.1:p.Tyr1566Ter
XM_011522638.2:c.4863T>G	XP_011520940.2:p.Tyr1621Ter
XM_011522639.2:c.4572T>G	XP_011520941.1:p.Tyr1524Ter
XM_011522640.2:c.4569T>G	XP_011520942.1:p.Tyr1523Ter
XM_017023615.1:c.4644T>G	XP_016879104.1:p.Tyr1548Ter
XM_017023616.1:c.4515T>G	XP_016879105.1:p.Tyr1505Ter
XM_017023617.1:c.4611T>G	XP_016879106.1:p.Tyr1537Ter
XM_017023618.1:c.3357T>G	XP_016879107.1:p.Tyr1119Ter
XM_024450413.1:c.4446T>G	XP_024306181.1:p.Tyr1482Ter
NM_000548.5:c.4647T>G MANE Select	NP_000539.2:p.Tyr1549Ter
NM_001370404.1:c.4515T>G	NP_001357333.1:p.Tyr1505Ter
NM_001370405.1:c.4518T>G	NP_001357334.1:p.Tyr1506Ter
NM_001077183.3:c.4446T>G	NP_001070651.1:p.Tyr1482Ter
NM_001114382.3:c.4578T>G	NP_001107854.1:p.Tyr1526Ter
NM_001318827.2:c.4338T>G	NP_001305756.1:p.Tyr1446Ter
NM_001318829.2:c.4302T>G	NP_001305758.1:p.Tyr1434Ter
NM_001318831.2:c.3915T>G	NP_001305760.1:p.Tyr1305Ter
NM_001318832.2:c.4479T>G	NP_001305761.1:p.Tyr1493Ter
NM_001363528.2:c.4449T>G	NP_001350457.1:p.Tyr1483Ter
NM_021055.3:c.4518T>G	NP_066399.2:p.Tyr1506Ter