Canonical Allele Identifier: CA394314733

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138316T>G (hg19) ; chr16:g.2088315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088315T>G , CM000678.2:g.2088315T>G	GRCh38
NC_000016.9:g.2138316T>G , CM000678.1:g.2138316T>G	GRCh37
NC_000016.8:g.2078317T>G	NCBI36
NG_005895.1:g.44010T>G , LRG_487:g.44010T>G
NG_008617.1:g.54906A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3598T>G	ENSP00000455997.2:n.*3598T>G
ENST00000642206.2:c.5096T>G	ENSP00000495146.2:p.Leu1699Arg
ENST00000642365.2:c.5246T>G	ENSP00000495459.2:p.Leu1749Arg
ENST00000644417.2:c.*5762T>G	ENSP00000493912.2:n.*5762T>G
ENST00000646464.2:c.*7998T>G	ENSP00000496610.2:n.*7998T>G
ENST00000219476.9:c.5249T>G MANE Select	ENSP00000219476.3:p.Leu1750Arg
ENST00000350773.9:c.5180T>G	ENSP00000344383.4:p.Leu1727Arg
ENST00000401874.7:c.5048T>G	ENSP00000384468.2:p.Leu1683Arg
ENST00000568454.6:c.5081T>G	ENSP00000454487.1:p.Leu1694Arg
ENST00000569110.2:c.1472T>G
ENST00000569930.2:n.3131T>G
ENST00000642365.1:c.3903T>G
ENST00000642561.1:c.5108T>G	ENSP00000495099.1:p.Leu1703Arg
ENST00000642791.1:n.846T>G
ENST00000642797.1:c.5051T>G	ENSP00000493846.1:p.Leu1684Arg
ENST00000642936.1:c.5117T>G	ENSP00000494514.1:p.Leu1706Arg
ENST00000643088.1:c.5042T>G	ENSP00000494747.1:p.Leu1681Arg
ENST00000643426.1:n.2897T>G
ENST00000643946.1:c.5174T>G	ENSP00000495927.1:p.Leu1725Arg
ENST00000644043.1:c.5120T>G	ENSP00000496262.1:p.Leu1707Arg
ENST00000644329.1:c.5135T>G	ENSP00000496611.1:p.Leu1712Arg
ENST00000644335.1:c.5045T>G	ENSP00000496317.1:p.Leu1682Arg
ENST00000644399.1:c.5170T>G
ENST00000645024.1:n.3333T>G
ENST00000646388.1:c.5243T>G	ENSP00000495921.1:p.Leu1748Arg
ENST00000646634.1:n.4064T>G
ENST00000646674.1:n.2501T>G
ENST00000647042.1:n.2472T>G
ENST00000647180.1:n.2362T>G
ENST00000219476.7:c.5249T>G	ENSP00000219476.3:p.Leu1750Arg
ENST00000350773.8:c.5180T>G	ENSP00000344383.4:p.Leu1727Arg
ENST00000382538.10:c.4904T>G	ENSP00000371978.6:p.Leu1635Arg
ENST00000401874.6:c.5048T>G	ENSP00000384468.2:p.Leu1683Arg
ENST00000439117.6:c.*4416T>G	ENSP00000406980.2:n.*4416T>G
ENST00000439673.6:c.4940T>G	ENSP00000399232.2:p.Leu1647Arg
ENST00000497886.5:n.2972T>G
ENST00000568454.5:c.5081T>G	ENSP00000454487.1:p.Leu1694Arg
ENST00000569110.1:c.1431T>G
ENST00000569930.1:n.2364T>G
NM_000548.3:c.5249T>G , LRG_487t1:c.5249T>G	NP_000539.2:p.Leu1750Arg
NM_001077183.1:c.5048T>G	NP_001070651.1:p.Leu1683Arg
NM_001114382.1:c.5180T>G	NP_001107854.1:p.Leu1727Arg
XM_005255529.3:c.5120T>G	XP_005255586.2:p.Leu1707Arg
XM_005255531.3:c.5051T>G	XP_005255588.2:p.Leu1684Arg
XM_011522636.1:c.5303T>G	XP_011520938.1:p.Leu1768Arg
XM_011522637.1:c.5300T>G	XP_011520939.1:p.Leu1767Arg
XM_011522638.1:c.5192T>G	XP_011520940.1:p.Leu1731Arg
XM_011522639.1:c.5174T>G	XP_011520941.1:p.Leu1725Arg
XM_011522640.1:c.5171T>G	XP_011520942.1:p.Leu1724Arg
XM_011522641.1:c.4940T>G	XP_011520943.1:p.Leu1647Arg
NM_000548.4:c.5249T>G	NP_000539.2:p.Leu1750Arg
NM_001077183.2:c.5048T>G	NP_001070651.1:p.Leu1683Arg
NM_001114382.2:c.5180T>G	NP_001107854.1:p.Leu1727Arg
NM_001318827.1:c.4940T>G	NP_001305756.1:p.Leu1647Arg
NM_001318829.1:c.4904T>G	NP_001305758.1:p.Leu1635Arg
NM_001318831.1:c.4517T>G	NP_001305760.1:p.Leu1506Arg
NM_001318832.1:c.5081T>G	NP_001305761.1:p.Leu1694Arg
NM_001363528.1:c.5051T>G	NP_001350457.1:p.Leu1684Arg
NM_021055.2:c.5120T>G	NP_066399.2:p.Leu1707Arg
XM_005255531.4:c.5051T>G	XP_005255588.2:p.Leu1684Arg
XM_011522636.2:c.5303T>G	XP_011520938.1:p.Leu1768Arg
XM_011522637.2:c.5300T>G	XP_011520939.1:p.Leu1767Arg
XM_011522638.2:c.5465T>G	XP_011520940.2:p.Leu1822Arg
XM_011522639.2:c.5174T>G	XP_011520941.1:p.Leu1725Arg
XM_011522640.2:c.5171T>G	XP_011520942.1:p.Leu1724Arg
XM_017023615.1:c.5246T>G	XP_016879104.1:p.Leu1749Arg
XM_017023616.1:c.5117T>G	XP_016879105.1:p.Leu1706Arg
XM_017023617.1:c.5213T>G	XP_016879106.1:p.Leu1738Arg
XM_017023618.1:c.3959T>G	XP_016879107.1:p.Leu1320Arg
XM_024450413.1:c.5135T>G	XP_024306181.1:p.Leu1712Arg
NM_000548.5:c.5249T>G MANE Select	NP_000539.2:p.Leu1750Arg
NM_001370404.1:c.5117T>G	NP_001357333.1:p.Leu1706Arg
NM_001370405.1:c.5108T>G	NP_001357334.1:p.Leu1703Arg
NM_001077183.3:c.5048T>G	NP_001070651.1:p.Leu1683Arg
NM_001114382.3:c.5180T>G	NP_001107854.1:p.Leu1727Arg
NM_001318827.2:c.4940T>G	NP_001305756.1:p.Leu1647Arg
NM_001318829.2:c.4904T>G	NP_001305758.1:p.Leu1635Arg
NM_001318831.2:c.4517T>G	NP_001305760.1:p.Leu1506Arg
NM_001318832.2:c.5081T>G	NP_001305761.1:p.Leu1694Arg
NM_001363528.2:c.5051T>G	NP_001350457.1:p.Leu1684Arg
NM_021055.3:c.5120T>G	NP_066399.2:p.Leu1707Arg