Canonical Allele Identifier: CA394302247

Gene: TSC2

Linked Data

• dbSNP Id: rs45517343
• MyVariant Identifiers: chr16:g.2134655G>T (hg19) ; chr16:g.2084654G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084654G>T , CM000678.2:g.2084654G>T	GRCh38
NC_000016.9:g.2134655G>T , CM000678.1:g.2134655G>T	GRCh37
NC_000016.8:g.2074656G>T	NCBI36
NG_005895.1:g.40349G>T , LRG_487:g.40349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2781G>T	ENSP00000455997.2:n.*2781G>T
ENST00000642206.2:c.4279G>T	ENSP00000495146.2:p.Asp1427Tyr
ENST00000642365.2:c.4429G>T	ENSP00000495459.2:p.Asp1477Tyr
ENST00000644417.2:c.*4812G>T	ENSP00000493912.2:n.*4812G>T
ENST00000646464.2:c.*7181G>T	ENSP00000496610.2:n.*7181G>T
ENST00000219476.9:c.4432G>T MANE Select	ENSP00000219476.3:p.Asp1478Tyr
ENST00000350773.9:c.4363G>T	ENSP00000344383.4:p.Asp1455Tyr
ENST00000401874.7:c.4231G>T	ENSP00000384468.2:p.Asp1411Tyr
ENST00000568454.6:c.4264G>T	ENSP00000454487.1:p.Asp1422Tyr
ENST00000569110.2:c.668G>T
ENST00000569930.2:n.2314G>T
ENST00000642365.1:c.3086G>T
ENST00000642561.1:c.4303G>T	ENSP00000495099.1:p.Asp1435Tyr
ENST00000642728.1:n.614G>T
ENST00000642797.1:c.4234G>T	ENSP00000493846.1:p.Asp1412Tyr
ENST00000642936.1:c.4300G>T	ENSP00000494514.1:p.Asp1434Tyr
ENST00000643088.1:c.4231G>T	ENSP00000494747.1:p.Asp1411Tyr
ENST00000643177.1:n.446G>T
ENST00000643426.1:n.2080G>T
ENST00000643946.1:c.4363G>T	ENSP00000495927.1:p.Asp1455Tyr
ENST00000644043.1:c.4303G>T	ENSP00000496262.1:p.Asp1435Tyr
ENST00000644329.1:c.4231G>T	ENSP00000496611.1:p.Asp1411Tyr
ENST00000644335.1:c.4234G>T	ENSP00000496317.1:p.Asp1412Tyr
ENST00000644399.1:c.4353G>T
ENST00000645024.1:n.2516G>T
ENST00000646388.1:c.4432G>T	ENSP00000495921.1:p.Asp1478Tyr
ENST00000646634.1:n.3247G>T
ENST00000646674.1:n.1684G>T
ENST00000647042.1:n.1655G>T
ENST00000647180.1:n.1545G>T
ENST00000219476.7:c.4432G>T	ENSP00000219476.3:p.Asp1478Tyr
ENST00000350773.8:c.4363G>T	ENSP00000344383.4:p.Asp1455Tyr
ENST00000382538.10:c.4087G>T	ENSP00000371978.6:p.Asp1363Tyr
ENST00000401874.6:c.4231G>T	ENSP00000384468.2:p.Asp1411Tyr
ENST00000439117.6:c.*3599G>T	ENSP00000406980.2:n.*3599G>T
ENST00000439673.6:c.4123G>T	ENSP00000399232.2:p.Asp1375Tyr
ENST00000497886.5:n.2190G>T
ENST00000568454.5:c.4264G>T	ENSP00000454487.1:p.Asp1422Tyr
ENST00000569110.1:c.614G>T
ENST00000569930.1:n.1547G>T
NM_000548.3:c.4432G>T , LRG_487t1:c.4432G>T	NP_000539.2:p.Asp1478Tyr
NM_001077183.1:c.4231G>T	NP_001070651.1:p.Asp1411Tyr
NM_001114382.1:c.4363G>T	NP_001107854.1:p.Asp1455Tyr
XM_005255529.3:c.4303G>T	XP_005255586.2:p.Asp1435Tyr
XM_005255531.3:c.4234G>T	XP_005255588.2:p.Asp1412Tyr
XM_011522636.1:c.4486G>T	XP_011520938.1:p.Asp1496Tyr
XM_011522637.1:c.4483G>T	XP_011520939.1:p.Asp1495Tyr
XM_011522638.1:c.4375G>T	XP_011520940.1:p.Asp1459Tyr
XM_011522639.1:c.4357G>T	XP_011520941.1:p.Asp1453Tyr
XM_011522640.1:c.4354G>T	XP_011520942.1:p.Asp1452Tyr
XM_011522641.1:c.4123G>T	XP_011520943.1:p.Asp1375Tyr
NM_000548.4:c.4432G>T	NP_000539.2:p.Asp1478Tyr
NM_001077183.2:c.4231G>T	NP_001070651.1:p.Asp1411Tyr
NM_001114382.2:c.4363G>T	NP_001107854.1:p.Asp1455Tyr
NM_001318827.1:c.4123G>T	NP_001305756.1:p.Asp1375Tyr
NM_001318829.1:c.4087G>T	NP_001305758.1:p.Asp1363Tyr
NM_001318831.1:c.3700G>T	NP_001305760.1:p.Asp1234Tyr
NM_001318832.1:c.4264G>T	NP_001305761.1:p.Asp1422Tyr
NM_001363528.1:c.4234G>T	NP_001350457.1:p.Asp1412Tyr
NM_021055.2:c.4303G>T	NP_066399.2:p.Asp1435Tyr
XM_005255531.4:c.4234G>T	XP_005255588.2:p.Asp1412Tyr
XM_011522636.2:c.4486G>T	XP_011520938.1:p.Asp1496Tyr
XM_011522637.2:c.4483G>T	XP_011520939.1:p.Asp1495Tyr
XM_011522638.2:c.4648G>T	XP_011520940.2:p.Asp1550Tyr
XM_011522639.2:c.4357G>T	XP_011520941.1:p.Asp1453Tyr
XM_011522640.2:c.4354G>T	XP_011520942.1:p.Asp1452Tyr
XM_017023615.1:c.4429G>T	XP_016879104.1:p.Asp1477Tyr
XM_017023616.1:c.4300G>T	XP_016879105.1:p.Asp1434Tyr
XM_017023617.1:c.4396G>T	XP_016879106.1:p.Asp1466Tyr
XM_017023618.1:c.3142G>T	XP_016879107.1:p.Asp1048Tyr
XM_024450413.1:c.4231G>T	XP_024306181.1:p.Asp1411Tyr
NM_000548.5:c.4432G>T MANE Select	NP_000539.2:p.Asp1478Tyr
NM_001370404.1:c.4300G>T	NP_001357333.1:p.Asp1434Tyr
NM_001370405.1:c.4303G>T	NP_001357334.1:p.Asp1435Tyr
NM_001077183.3:c.4231G>T	NP_001070651.1:p.Asp1411Tyr
NM_001114382.3:c.4363G>T	NP_001107854.1:p.Asp1455Tyr
NM_001318827.2:c.4123G>T	NP_001305756.1:p.Asp1375Tyr
NM_001318829.2:c.4087G>T	NP_001305758.1:p.Asp1363Tyr
NM_001318831.2:c.3700G>T	NP_001305760.1:p.Asp1234Tyr
NM_001318832.2:c.4264G>T	NP_001305761.1:p.Asp1422Tyr
NM_001363528.2:c.4234G>T	NP_001350457.1:p.Asp1412Tyr
NM_021055.3:c.4303G>T	NP_066399.2:p.Asp1435Tyr