Canonical Allele Identifier: CA394305012

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135312G>T (hg19) ; chr16:g.2085311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085311G>T , CM000678.2:g.2085311G>T	GRCh38
NC_000016.9:g.2135312G>T , CM000678.1:g.2135312G>T	GRCh37
NC_000016.8:g.2075313G>T	NCBI36
NG_005895.1:g.41006G>T , LRG_487:g.41006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3000G>T	ENSP00000455997.2:n.*3000G>T
ENST00000642206.2:c.4498G>T	ENSP00000495146.2:p.Gly1500Ter
ENST00000642365.2:c.4648G>T	ENSP00000495459.2:p.Gly1550Ter
ENST00000644417.2:c.*5031G>T	ENSP00000493912.2:n.*5031G>T
ENST00000646464.2:c.*7400G>T	ENSP00000496610.2:n.*7400G>T
ENST00000219476.9:c.4651G>T MANE Select	ENSP00000219476.3:p.Gly1551Ter
ENST00000350773.9:c.4582G>T	ENSP00000344383.4:p.Gly1528Ter
ENST00000401874.7:c.4450G>T	ENSP00000384468.2:p.Gly1484Ter
ENST00000568454.6:c.4483G>T	ENSP00000454487.1:p.Gly1495Ter
ENST00000569110.2:c.874G>T
ENST00000569930.2:n.2533G>T
ENST00000642365.1:c.3305G>T
ENST00000642561.1:c.4522G>T	ENSP00000495099.1:p.Gly1508Ter
ENST00000642728.1:n.833G>T
ENST00000642791.1:n.248G>T
ENST00000642797.1:c.4453G>T	ENSP00000493846.1:p.Gly1485Ter
ENST00000642936.1:c.4519G>T	ENSP00000494514.1:p.Gly1507Ter
ENST00000643088.1:c.4444G>T	ENSP00000494747.1:p.Gly1482Ter
ENST00000643177.1:n.665G>T
ENST00000643426.1:n.2299G>T
ENST00000643946.1:c.4576G>T	ENSP00000495927.1:p.Gly1526Ter
ENST00000644043.1:c.4522G>T	ENSP00000496262.1:p.Gly1508Ter
ENST00000644278.1:n.133G>T
ENST00000644329.1:c.4450G>T	ENSP00000496611.1:p.Gly1484Ter
ENST00000644335.1:c.4447G>T	ENSP00000496317.1:p.Gly1483Ter
ENST00000644399.1:c.4572G>T
ENST00000645024.1:n.2735G>T
ENST00000646388.1:c.4645G>T	ENSP00000495921.1:p.Gly1549Ter
ENST00000646634.1:n.3466G>T
ENST00000646674.1:n.1903G>T
ENST00000647042.1:n.1874G>T
ENST00000647180.1:n.1764G>T
ENST00000219476.7:c.4651G>T	ENSP00000219476.3:p.Gly1551Ter
ENST00000350773.8:c.4582G>T	ENSP00000344383.4:p.Gly1528Ter
ENST00000382538.10:c.4306G>T	ENSP00000371978.6:p.Gly1436Ter
ENST00000401874.6:c.4450G>T	ENSP00000384468.2:p.Gly1484Ter
ENST00000439117.6:c.*3818G>T	ENSP00000406980.2:n.*3818G>T
ENST00000439673.6:c.4342G>T	ENSP00000399232.2:p.Gly1448Ter
ENST00000497886.5:n.2409G>T
ENST00000568454.5:c.4483G>T	ENSP00000454487.1:p.Gly1495Ter
ENST00000569110.1:c.833G>T
ENST00000569930.1:n.1766G>T
NM_000548.3:c.4651G>T , LRG_487t1:c.4651G>T	NP_000539.2:p.Gly1551Ter
NM_001077183.1:c.4450G>T	NP_001070651.1:p.Gly1484Ter
NM_001114382.1:c.4582G>T	NP_001107854.1:p.Gly1528Ter
XM_005255529.3:c.4522G>T	XP_005255586.2:p.Gly1508Ter
XM_005255531.3:c.4453G>T	XP_005255588.2:p.Gly1485Ter
XM_011522636.1:c.4705G>T	XP_011520938.1:p.Gly1569Ter
XM_011522637.1:c.4702G>T	XP_011520939.1:p.Gly1568Ter
XM_011522638.1:c.4594G>T	XP_011520940.1:p.Gly1532Ter
XM_011522639.1:c.4576G>T	XP_011520941.1:p.Gly1526Ter
XM_011522640.1:c.4573G>T	XP_011520942.1:p.Gly1525Ter
XM_011522641.1:c.4342G>T	XP_011520943.1:p.Gly1448Ter
NM_000548.4:c.4651G>T	NP_000539.2:p.Gly1551Ter
NM_001077183.2:c.4450G>T	NP_001070651.1:p.Gly1484Ter
NM_001114382.2:c.4582G>T	NP_001107854.1:p.Gly1528Ter
NM_001318827.1:c.4342G>T	NP_001305756.1:p.Gly1448Ter
NM_001318829.1:c.4306G>T	NP_001305758.1:p.Gly1436Ter
NM_001318831.1:c.3919G>T	NP_001305760.1:p.Gly1307Ter
NM_001318832.1:c.4483G>T	NP_001305761.1:p.Gly1495Ter
NM_001363528.1:c.4453G>T	NP_001350457.1:p.Gly1485Ter
NM_021055.2:c.4522G>T	NP_066399.2:p.Gly1508Ter
XM_005255531.4:c.4453G>T	XP_005255588.2:p.Gly1485Ter
XM_011522636.2:c.4705G>T	XP_011520938.1:p.Gly1569Ter
XM_011522637.2:c.4702G>T	XP_011520939.1:p.Gly1568Ter
XM_011522638.2:c.4867G>T	XP_011520940.2:p.Gly1623Ter
XM_011522639.2:c.4576G>T	XP_011520941.1:p.Gly1526Ter
XM_011522640.2:c.4573G>T	XP_011520942.1:p.Gly1525Ter
XM_017023615.1:c.4648G>T	XP_016879104.1:p.Gly1550Ter
XM_017023616.1:c.4519G>T	XP_016879105.1:p.Gly1507Ter
XM_017023617.1:c.4615G>T	XP_016879106.1:p.Gly1539Ter
XM_017023618.1:c.3361G>T	XP_016879107.1:p.Gly1121Ter
XM_024450413.1:c.4450G>T	XP_024306181.1:p.Gly1484Ter
NM_000548.5:c.4651G>T MANE Select	NP_000539.2:p.Gly1551Ter
NM_001370404.1:c.4519G>T	NP_001357333.1:p.Gly1507Ter
NM_001370405.1:c.4522G>T	NP_001357334.1:p.Gly1508Ter
NM_001077183.3:c.4450G>T	NP_001070651.1:p.Gly1484Ter
NM_001114382.3:c.4582G>T	NP_001107854.1:p.Gly1528Ter
NM_001318827.2:c.4342G>T	NP_001305756.1:p.Gly1448Ter
NM_001318829.2:c.4306G>T	NP_001305758.1:p.Gly1436Ter
NM_001318831.2:c.3919G>T	NP_001305760.1:p.Gly1307Ter
NM_001318832.2:c.4483G>T	NP_001305761.1:p.Gly1495Ter
NM_001363528.2:c.4453G>T	NP_001350457.1:p.Gly1485Ter
NM_021055.3:c.4522G>T	NP_066399.2:p.Gly1508Ter