Canonical Allele Identifier: CA394301849

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134607A>T (hg19) ; chr16:g.2084606A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084606A>T , CM000678.2:g.2084606A>T	GRCh38
NC_000016.9:g.2134607A>T , CM000678.1:g.2134607A>T	GRCh37
NC_000016.8:g.2074608A>T	NCBI36
NG_005895.1:g.40301A>T , LRG_487:g.40301A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2733A>T	ENSP00000455997.2:n.*2733A>T
ENST00000642206.2:c.4231A>T	ENSP00000495146.2:p.Thr1411Ser
ENST00000642365.2:c.4381A>T	ENSP00000495459.2:p.Thr1461Ser
ENST00000644417.2:c.*4764A>T	ENSP00000493912.2:n.*4764A>T
ENST00000646464.2:c.*7133A>T	ENSP00000496610.2:n.*7133A>T
ENST00000219476.9:c.4384A>T MANE Select	ENSP00000219476.3:p.Thr1462Ser
ENST00000350773.9:c.4315A>T	ENSP00000344383.4:p.Thr1439Ser
ENST00000401874.7:c.4183A>T	ENSP00000384468.2:p.Thr1395Ser
ENST00000568454.6:c.4216A>T	ENSP00000454487.1:p.Thr1406Ser
ENST00000569110.2:c.620A>T
ENST00000569930.2:n.2266A>T
ENST00000642365.1:c.3038A>T
ENST00000642561.1:c.4255A>T	ENSP00000495099.1:p.Thr1419Ser
ENST00000642728.1:n.566A>T
ENST00000642797.1:c.4186A>T	ENSP00000493846.1:p.Thr1396Ser
ENST00000642936.1:c.4252A>T	ENSP00000494514.1:p.Thr1418Ser
ENST00000643088.1:c.4183A>T	ENSP00000494747.1:p.Thr1395Ser
ENST00000643177.1:n.398A>T
ENST00000643426.1:n.2032A>T
ENST00000643946.1:c.4315A>T	ENSP00000495927.1:p.Thr1439Ser
ENST00000644043.1:c.4255A>T	ENSP00000496262.1:p.Thr1419Ser
ENST00000644329.1:c.4183A>T	ENSP00000496611.1:p.Thr1395Ser
ENST00000644335.1:c.4186A>T	ENSP00000496317.1:p.Thr1396Ser
ENST00000644399.1:c.4305A>T
ENST00000645024.1:n.2468A>T
ENST00000646388.1:c.4384A>T	ENSP00000495921.1:p.Thr1462Ser
ENST00000646634.1:n.3199A>T
ENST00000646674.1:n.1636A>T
ENST00000647042.1:n.1607A>T
ENST00000647180.1:n.1497A>T
ENST00000219476.7:c.4384A>T	ENSP00000219476.3:p.Thr1462Ser
ENST00000350773.8:c.4315A>T	ENSP00000344383.4:p.Thr1439Ser
ENST00000382538.10:c.4039A>T	ENSP00000371978.6:p.Thr1347Ser
ENST00000401874.6:c.4183A>T	ENSP00000384468.2:p.Thr1395Ser
ENST00000439117.6:c.*3551A>T	ENSP00000406980.2:n.*3551A>T
ENST00000439673.6:c.4075A>T	ENSP00000399232.2:p.Thr1359Ser
ENST00000497886.5:n.2142A>T
ENST00000568454.5:c.4216A>T	ENSP00000454487.1:p.Thr1406Ser
ENST00000569110.1:c.566A>T
ENST00000569930.1:n.1499A>T
NM_000548.3:c.4384A>T , LRG_487t1:c.4384A>T	NP_000539.2:p.Thr1462Ser
NM_001077183.1:c.4183A>T	NP_001070651.1:p.Thr1395Ser
NM_001114382.1:c.4315A>T	NP_001107854.1:p.Thr1439Ser
XM_005255529.3:c.4255A>T	XP_005255586.2:p.Thr1419Ser
XM_005255531.3:c.4186A>T	XP_005255588.2:p.Thr1396Ser
XM_011522636.1:c.4438A>T	XP_011520938.1:p.Thr1480Ser
XM_011522637.1:c.4435A>T	XP_011520939.1:p.Thr1479Ser
XM_011522638.1:c.4327A>T	XP_011520940.1:p.Thr1443Ser
XM_011522639.1:c.4309A>T	XP_011520941.1:p.Thr1437Ser
XM_011522640.1:c.4306A>T	XP_011520942.1:p.Thr1436Ser
XM_011522641.1:c.4075A>T	XP_011520943.1:p.Thr1359Ser
NM_000548.4:c.4384A>T	NP_000539.2:p.Thr1462Ser
NM_001077183.2:c.4183A>T	NP_001070651.1:p.Thr1395Ser
NM_001114382.2:c.4315A>T	NP_001107854.1:p.Thr1439Ser
NM_001318827.1:c.4075A>T	NP_001305756.1:p.Thr1359Ser
NM_001318829.1:c.4039A>T	NP_001305758.1:p.Thr1347Ser
NM_001318831.1:c.3652A>T	NP_001305760.1:p.Thr1218Ser
NM_001318832.1:c.4216A>T	NP_001305761.1:p.Thr1406Ser
NM_001363528.1:c.4186A>T	NP_001350457.1:p.Thr1396Ser
NM_021055.2:c.4255A>T	NP_066399.2:p.Thr1419Ser
XM_005255531.4:c.4186A>T	XP_005255588.2:p.Thr1396Ser
XM_011522636.2:c.4438A>T	XP_011520938.1:p.Thr1480Ser
XM_011522637.2:c.4435A>T	XP_011520939.1:p.Thr1479Ser
XM_011522638.2:c.4600A>T	XP_011520940.2:p.Thr1534Ser
XM_011522639.2:c.4309A>T	XP_011520941.1:p.Thr1437Ser
XM_011522640.2:c.4306A>T	XP_011520942.1:p.Thr1436Ser
XM_017023615.1:c.4381A>T	XP_016879104.1:p.Thr1461Ser
XM_017023616.1:c.4252A>T	XP_016879105.1:p.Thr1418Ser
XM_017023617.1:c.4348A>T	XP_016879106.1:p.Thr1450Ser
XM_017023618.1:c.3094A>T	XP_016879107.1:p.Thr1032Ser
XM_024450413.1:c.4183A>T	XP_024306181.1:p.Thr1395Ser
NM_000548.5:c.4384A>T MANE Select	NP_000539.2:p.Thr1462Ser
NM_001370404.1:c.4252A>T	NP_001357333.1:p.Thr1418Ser
NM_001370405.1:c.4255A>T	NP_001357334.1:p.Thr1419Ser
NM_001077183.3:c.4183A>T	NP_001070651.1:p.Thr1395Ser
NM_001114382.3:c.4315A>T	NP_001107854.1:p.Thr1439Ser
NM_001318827.2:c.4075A>T	NP_001305756.1:p.Thr1359Ser
NM_001318829.2:c.4039A>T	NP_001305758.1:p.Thr1347Ser
NM_001318831.2:c.3652A>T	NP_001305760.1:p.Thr1218Ser
NM_001318832.2:c.4216A>T	NP_001305761.1:p.Thr1406Ser
NM_001363528.2:c.4186A>T	NP_001350457.1:p.Thr1396Ser
NM_021055.3:c.4255A>T	NP_066399.2:p.Thr1419Ser