Canonical Allele Identifier: CA492958277

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135278A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085277A>T , CM000678.2:g.2085277A>T	GRCh38
NC_000016.9:g.2135278A>T , CM000678.1:g.2135278A>T	GRCh37
NC_000016.8:g.2075279A>T	NCBI36
NG_005895.1:g.40972A>T , LRG_487:g.40972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2966A>T	ENSP00000455997.2:n.*2966A>T
ENST00000642206.2:c.4464A>T	ENSP00000495146.2:p.Ser1488=
ENST00000642365.2:c.4614A>T	ENSP00000495459.2:p.Ser1538=
ENST00000644417.2:c.*4997A>T	ENSP00000493912.2:n.*4997A>T
ENST00000646464.2:c.*7366A>T	ENSP00000496610.2:n.*7366A>T
ENST00000219476.9:c.4617A>T MANE Select	ENSP00000219476.3:p.Ser1539=
ENST00000350773.9:c.4548A>T	ENSP00000344383.4:p.Ser1516=
ENST00000401874.7:c.4416A>T	ENSP00000384468.2:p.Ser1472=
ENST00000568454.6:c.4449A>T	ENSP00000454487.1:p.Ser1483=
ENST00000569110.2:c.840A>T
ENST00000569930.2:n.2499A>T
ENST00000642365.1:c.3271A>T
ENST00000642561.1:c.4488A>T	ENSP00000495099.1:p.Ser1496=
ENST00000642728.1:n.799A>T
ENST00000642791.1:n.214A>T
ENST00000642797.1:c.4419A>T	ENSP00000493846.1:p.Ser1473=
ENST00000642936.1:c.4485A>T	ENSP00000494514.1:p.Ser1495=
ENST00000643088.1:c.4410A>T	ENSP00000494747.1:p.Ser1470=
ENST00000643177.1:n.631A>T
ENST00000643426.1:n.2265A>T
ENST00000643946.1:c.4542A>T	ENSP00000495927.1:p.Ser1514=
ENST00000644043.1:c.4488A>T	ENSP00000496262.1:p.Ser1496=
ENST00000644278.1:n.99A>T
ENST00000644329.1:c.4416A>T	ENSP00000496611.1:p.Ser1472=
ENST00000644335.1:c.4413A>T	ENSP00000496317.1:p.Ser1471=
ENST00000644399.1:c.4538A>T
ENST00000645024.1:n.2701A>T
ENST00000646388.1:c.4611A>T	ENSP00000495921.1:p.Ser1537=
ENST00000646634.1:n.3432A>T
ENST00000646674.1:n.1869A>T
ENST00000647042.1:n.1840A>T
ENST00000647180.1:n.1730A>T
ENST00000219476.7:c.4617A>T	ENSP00000219476.3:p.Ser1539=
ENST00000350773.8:c.4548A>T	ENSP00000344383.4:p.Ser1516=
ENST00000382538.10:c.4272A>T	ENSP00000371978.6:p.Ser1424=
ENST00000401874.6:c.4416A>T	ENSP00000384468.2:p.Ser1472=
ENST00000439117.6:c.*3784A>T	ENSP00000406980.2:n.*3784A>T
ENST00000439673.6:c.4308A>T	ENSP00000399232.2:p.Ser1436=
ENST00000497886.5:n.2375A>T
ENST00000568454.5:c.4449A>T	ENSP00000454487.1:p.Ser1483=
ENST00000569110.1:c.799A>T
ENST00000569930.1:n.1732A>T
NM_000548.3:c.4617A>T , LRG_487t1:c.4617A>T	NP_000539.2:p.Ser1539=
NM_001077183.1:c.4416A>T	NP_001070651.1:p.Ser1472=
NM_001114382.1:c.4548A>T	NP_001107854.1:p.Ser1516=
XM_005255529.3:c.4488A>T	XP_005255586.2:p.Ser1496=
XM_005255531.3:c.4419A>T	XP_005255588.2:p.Ser1473=
XM_011522636.1:c.4671A>T	XP_011520938.1:p.Ser1557=
XM_011522637.1:c.4668A>T	XP_011520939.1:p.Ser1556=
XM_011522638.1:c.4560A>T	XP_011520940.1:p.Ser1520=
XM_011522639.1:c.4542A>T	XP_011520941.1:p.Ser1514=
XM_011522640.1:c.4539A>T	XP_011520942.1:p.Ser1513=
XM_011522641.1:c.4308A>T	XP_011520943.1:p.Ser1436=
NM_000548.4:c.4617A>T	NP_000539.2:p.Ser1539=
NM_001077183.2:c.4416A>T	NP_001070651.1:p.Ser1472=
NM_001114382.2:c.4548A>T	NP_001107854.1:p.Ser1516=
NM_001318827.1:c.4308A>T	NP_001305756.1:p.Ser1436=
NM_001318829.1:c.4272A>T	NP_001305758.1:p.Ser1424=
NM_001318831.1:c.3885A>T	NP_001305760.1:p.Ser1295=
NM_001318832.1:c.4449A>T	NP_001305761.1:p.Ser1483=
NM_001363528.1:c.4419A>T	NP_001350457.1:p.Ser1473=
NM_021055.2:c.4488A>T	NP_066399.2:p.Ser1496=
XM_005255531.4:c.4419A>T	XP_005255588.2:p.Ser1473=
XM_011522636.2:c.4671A>T	XP_011520938.1:p.Ser1557=
XM_011522637.2:c.4668A>T	XP_011520939.1:p.Ser1556=
XM_011522638.2:c.4833A>T	XP_011520940.2:p.Ser1611=
XM_011522639.2:c.4542A>T	XP_011520941.1:p.Ser1514=
XM_011522640.2:c.4539A>T	XP_011520942.1:p.Ser1513=
XM_017023615.1:c.4614A>T	XP_016879104.1:p.Ser1538=
XM_017023616.1:c.4485A>T	XP_016879105.1:p.Ser1495=
XM_017023617.1:c.4581A>T	XP_016879106.1:p.Ser1527=
XM_017023618.1:c.3327A>T	XP_016879107.1:p.Ser1109=
XM_024450413.1:c.4416A>T	XP_024306181.1:p.Ser1472=
NM_000548.5:c.4617A>T MANE Select	NP_000539.2:p.Ser1539=
NM_001370404.1:c.4485A>T	NP_001357333.1:p.Ser1495=
NM_001370405.1:c.4488A>T	NP_001357334.1:p.Ser1496=
NM_001077183.3:c.4416A>T	NP_001070651.1:p.Ser1472=
NM_001114382.3:c.4548A>T	NP_001107854.1:p.Ser1516=
NM_001318827.2:c.4308A>T	NP_001305756.1:p.Ser1436=
NM_001318829.2:c.4272A>T	NP_001305758.1:p.Ser1424=
NM_001318831.2:c.3885A>T	NP_001305760.1:p.Ser1295=
NM_001318832.2:c.4449A>T	NP_001305761.1:p.Ser1483=
NM_001363528.2:c.4419A>T	NP_001350457.1:p.Ser1473=
NM_021055.3:c.4488A>T	NP_066399.2:p.Ser1496=