Canonical Allele Identifier: CA394305082

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2058376
• ClinVar RCV Id: RCV002905031
• gnomAD v4: 16-2085318-G-T
• MyVariant Identifiers: chr16:g.2135319G>T (hg19) ; chr16:g.2085318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085318G>T , CM000678.2:g.2085318G>T	GRCh38
NC_000016.9:g.2135319G>T , CM000678.1:g.2135319G>T	GRCh37
NC_000016.8:g.2075320G>T	NCBI36
NG_005895.1:g.41013G>T , LRG_487:g.41013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3007G>T	ENSP00000455997.2:n.*3007G>T
ENST00000642206.2:c.4505G>T	ENSP00000495146.2:p.Gly1502Val
ENST00000642365.2:c.4655G>T	ENSP00000495459.2:p.Gly1552Val
ENST00000644417.2:c.*5038G>T	ENSP00000493912.2:n.*5038G>T
ENST00000646464.2:c.*7407G>T	ENSP00000496610.2:n.*7407G>T
ENST00000219476.9:c.4658G>T MANE Select	ENSP00000219476.3:p.Gly1553Val
ENST00000350773.9:c.4589G>T	ENSP00000344383.4:p.Gly1530Val
ENST00000401874.7:c.4457G>T	ENSP00000384468.2:p.Gly1486Val
ENST00000568454.6:c.4490G>T	ENSP00000454487.1:p.Gly1497Val
ENST00000569110.2:c.881G>T
ENST00000569930.2:n.2540G>T
ENST00000642365.1:c.3312G>T
ENST00000642561.1:c.4529G>T	ENSP00000495099.1:p.Gly1510Val
ENST00000642728.1:n.840G>T
ENST00000642791.1:n.255G>T
ENST00000642797.1:c.4460G>T	ENSP00000493846.1:p.Gly1487Val
ENST00000642936.1:c.4526G>T	ENSP00000494514.1:p.Gly1509Val
ENST00000643088.1:c.4451G>T	ENSP00000494747.1:p.Gly1484Val
ENST00000643177.1:n.672G>T
ENST00000643426.1:n.2306G>T
ENST00000643946.1:c.4583G>T	ENSP00000495927.1:p.Gly1528Val
ENST00000644043.1:c.4529G>T	ENSP00000496262.1:p.Gly1510Val
ENST00000644278.1:n.140G>T
ENST00000644329.1:c.4457G>T	ENSP00000496611.1:p.Gly1486Val
ENST00000644335.1:c.4454G>T	ENSP00000496317.1:p.Gly1485Val
ENST00000644399.1:c.4579G>T
ENST00000645024.1:n.2742G>T
ENST00000646388.1:c.4652G>T	ENSP00000495921.1:p.Gly1551Val
ENST00000646634.1:n.3473G>T
ENST00000646674.1:n.1910G>T
ENST00000647042.1:n.1881G>T
ENST00000647180.1:n.1771G>T
ENST00000219476.7:c.4658G>T	ENSP00000219476.3:p.Gly1553Val
ENST00000350773.8:c.4589G>T	ENSP00000344383.4:p.Gly1530Val
ENST00000382538.10:c.4313G>T	ENSP00000371978.6:p.Gly1438Val
ENST00000401874.6:c.4457G>T	ENSP00000384468.2:p.Gly1486Val
ENST00000439117.6:c.*3825G>T	ENSP00000406980.2:n.*3825G>T
ENST00000439673.6:c.4349G>T	ENSP00000399232.2:p.Gly1450Val
ENST00000497886.5:n.2416G>T
ENST00000568454.5:c.4490G>T	ENSP00000454487.1:p.Gly1497Val
ENST00000569110.1:c.840G>T
ENST00000569930.1:n.1773G>T
NM_000548.3:c.4658G>T , LRG_487t1:c.4658G>T	NP_000539.2:p.Gly1553Val
NM_001077183.1:c.4457G>T	NP_001070651.1:p.Gly1486Val
NM_001114382.1:c.4589G>T	NP_001107854.1:p.Gly1530Val
XM_005255529.3:c.4529G>T	XP_005255586.2:p.Gly1510Val
XM_005255531.3:c.4460G>T	XP_005255588.2:p.Gly1487Val
XM_011522636.1:c.4712G>T	XP_011520938.1:p.Gly1571Val
XM_011522637.1:c.4709G>T	XP_011520939.1:p.Gly1570Val
XM_011522638.1:c.4601G>T	XP_011520940.1:p.Gly1534Val
XM_011522639.1:c.4583G>T	XP_011520941.1:p.Gly1528Val
XM_011522640.1:c.4580G>T	XP_011520942.1:p.Gly1527Val
XM_011522641.1:c.4349G>T	XP_011520943.1:p.Gly1450Val
NM_000548.4:c.4658G>T	NP_000539.2:p.Gly1553Val
NM_001077183.2:c.4457G>T	NP_001070651.1:p.Gly1486Val
NM_001114382.2:c.4589G>T	NP_001107854.1:p.Gly1530Val
NM_001318827.1:c.4349G>T	NP_001305756.1:p.Gly1450Val
NM_001318829.1:c.4313G>T	NP_001305758.1:p.Gly1438Val
NM_001318831.1:c.3926G>T	NP_001305760.1:p.Gly1309Val
NM_001318832.1:c.4490G>T	NP_001305761.1:p.Gly1497Val
NM_001363528.1:c.4460G>T	NP_001350457.1:p.Gly1487Val
NM_021055.2:c.4529G>T	NP_066399.2:p.Gly1510Val
XM_005255531.4:c.4460G>T	XP_005255588.2:p.Gly1487Val
XM_011522636.2:c.4712G>T	XP_011520938.1:p.Gly1571Val
XM_011522637.2:c.4709G>T	XP_011520939.1:p.Gly1570Val
XM_011522638.2:c.4874G>T	XP_011520940.2:p.Gly1625Val
XM_011522639.2:c.4583G>T	XP_011520941.1:p.Gly1528Val
XM_011522640.2:c.4580G>T	XP_011520942.1:p.Gly1527Val
XM_017023615.1:c.4655G>T	XP_016879104.1:p.Gly1552Val
XM_017023616.1:c.4526G>T	XP_016879105.1:p.Gly1509Val
XM_017023617.1:c.4622G>T	XP_016879106.1:p.Gly1541Val
XM_017023618.1:c.3368G>T	XP_016879107.1:p.Gly1123Val
XM_024450413.1:c.4457G>T	XP_024306181.1:p.Gly1486Val
NM_000548.5:c.4658G>T MANE Select	NP_000539.2:p.Gly1553Val
NM_001370404.1:c.4526G>T	NP_001357333.1:p.Gly1509Val
NM_001370405.1:c.4529G>T	NP_001357334.1:p.Gly1510Val
NM_001077183.3:c.4457G>T	NP_001070651.1:p.Gly1486Val
NM_001114382.3:c.4589G>T	NP_001107854.1:p.Gly1530Val
NM_001318827.2:c.4349G>T	NP_001305756.1:p.Gly1450Val
NM_001318829.2:c.4313G>T	NP_001305758.1:p.Gly1438Val
NM_001318831.2:c.3926G>T	NP_001305760.1:p.Gly1309Val
NM_001318832.2:c.4490G>T	NP_001305761.1:p.Gly1497Val
NM_001363528.2:c.4460G>T	NP_001350457.1:p.Gly1487Val
NM_021055.3:c.4529G>T	NP_066399.2:p.Gly1510Val