Canonical Allele Identifier: CA394314615

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1359198
• ClinVar RCV Id: RCV001904352
• dbSNP Id: rs2151631825
• MyVariant Identifiers: chr16:g.2138304A>G (hg19) ; chr16:g.2088303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088303A>G , CM000678.2:g.2088303A>G	GRCh38
NC_000016.9:g.2138304A>G , CM000678.1:g.2138304A>G	GRCh37
NC_000016.8:g.2078305A>G	NCBI36
NG_005895.1:g.43998A>G , LRG_487:g.43998A>G
NG_008617.1:g.54918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3586A>G	ENSP00000455997.2:n.*3586A>G
ENST00000642206.2:c.5084A>G	ENSP00000495146.2:p.His1695Arg
ENST00000642365.2:c.5234A>G	ENSP00000495459.2:p.His1745Arg
ENST00000644417.2:c.*5750A>G	ENSP00000493912.2:n.*5750A>G
ENST00000646464.2:c.*7986A>G	ENSP00000496610.2:n.*7986A>G
ENST00000219476.9:c.5237A>G MANE Select	ENSP00000219476.3:p.His1746Arg
ENST00000350773.9:c.5168A>G	ENSP00000344383.4:p.His1723Arg
ENST00000401874.7:c.5036A>G	ENSP00000384468.2:p.His1679Arg
ENST00000568454.6:c.5069A>G	ENSP00000454487.1:p.His1690Arg
ENST00000569110.2:c.1460A>G
ENST00000569930.2:n.3119A>G
ENST00000642365.1:c.3891A>G
ENST00000642561.1:c.5096A>G	ENSP00000495099.1:p.His1699Arg
ENST00000642791.1:n.834A>G
ENST00000642797.1:c.5039A>G	ENSP00000493846.1:p.His1680Arg
ENST00000642936.1:c.5105A>G	ENSP00000494514.1:p.His1702Arg
ENST00000643088.1:c.5030A>G	ENSP00000494747.1:p.His1677Arg
ENST00000643426.1:n.2885A>G
ENST00000643946.1:c.5162A>G	ENSP00000495927.1:p.His1721Arg
ENST00000644043.1:c.5108A>G	ENSP00000496262.1:p.His1703Arg
ENST00000644329.1:c.5123A>G	ENSP00000496611.1:p.His1708Arg
ENST00000644335.1:c.5033A>G	ENSP00000496317.1:p.His1678Arg
ENST00000644399.1:c.5158A>G
ENST00000645024.1:n.3321A>G
ENST00000646388.1:c.5231A>G	ENSP00000495921.1:p.His1744Arg
ENST00000646634.1:n.4052A>G
ENST00000646674.1:n.2489A>G
ENST00000647042.1:n.2460A>G
ENST00000647180.1:n.2350A>G
ENST00000219476.7:c.5237A>G	ENSP00000219476.3:p.His1746Arg
ENST00000350773.8:c.5168A>G	ENSP00000344383.4:p.His1723Arg
ENST00000382538.10:c.4892A>G	ENSP00000371978.6:p.His1631Arg
ENST00000401874.6:c.5036A>G	ENSP00000384468.2:p.His1679Arg
ENST00000439117.6:c.*4404A>G	ENSP00000406980.2:n.*4404A>G
ENST00000439673.6:c.4928A>G	ENSP00000399232.2:p.His1643Arg
ENST00000497886.5:n.2960A>G
ENST00000568454.5:c.5069A>G	ENSP00000454487.1:p.His1690Arg
ENST00000569110.1:c.1419A>G
ENST00000569930.1:n.2352A>G
NM_000548.3:c.5237A>G , LRG_487t1:c.5237A>G	NP_000539.2:p.His1746Arg
NM_001077183.1:c.5036A>G	NP_001070651.1:p.His1679Arg
NM_001114382.1:c.5168A>G	NP_001107854.1:p.His1723Arg
XM_005255529.3:c.5108A>G	XP_005255586.2:p.His1703Arg
XM_005255531.3:c.5039A>G	XP_005255588.2:p.His1680Arg
XM_011522636.1:c.5291A>G	XP_011520938.1:p.His1764Arg
XM_011522637.1:c.5288A>G	XP_011520939.1:p.His1763Arg
XM_011522638.1:c.5180A>G	XP_011520940.1:p.His1727Arg
XM_011522639.1:c.5162A>G	XP_011520941.1:p.His1721Arg
XM_011522640.1:c.5159A>G	XP_011520942.1:p.His1720Arg
XM_011522641.1:c.4928A>G	XP_011520943.1:p.His1643Arg
NM_000548.4:c.5237A>G	NP_000539.2:p.His1746Arg
NM_001077183.2:c.5036A>G	NP_001070651.1:p.His1679Arg
NM_001114382.2:c.5168A>G	NP_001107854.1:p.His1723Arg
NM_001318827.1:c.4928A>G	NP_001305756.1:p.His1643Arg
NM_001318829.1:c.4892A>G	NP_001305758.1:p.His1631Arg
NM_001318831.1:c.4505A>G	NP_001305760.1:p.His1502Arg
NM_001318832.1:c.5069A>G	NP_001305761.1:p.His1690Arg
NM_001363528.1:c.5039A>G	NP_001350457.1:p.His1680Arg
NM_021055.2:c.5108A>G	NP_066399.2:p.His1703Arg
XM_005255531.4:c.5039A>G	XP_005255588.2:p.His1680Arg
XM_011522636.2:c.5291A>G	XP_011520938.1:p.His1764Arg
XM_011522637.2:c.5288A>G	XP_011520939.1:p.His1763Arg
XM_011522638.2:c.5453A>G	XP_011520940.2:p.His1818Arg
XM_011522639.2:c.5162A>G	XP_011520941.1:p.His1721Arg
XM_011522640.2:c.5159A>G	XP_011520942.1:p.His1720Arg
XM_017023615.1:c.5234A>G	XP_016879104.1:p.His1745Arg
XM_017023616.1:c.5105A>G	XP_016879105.1:p.His1702Arg
XM_017023617.1:c.5201A>G	XP_016879106.1:p.His1734Arg
XM_017023618.1:c.3947A>G	XP_016879107.1:p.His1316Arg
XM_024450413.1:c.5123A>G	XP_024306181.1:p.His1708Arg
NM_000548.5:c.5237A>G MANE Select	NP_000539.2:p.His1746Arg
NM_001370404.1:c.5105A>G	NP_001357333.1:p.His1702Arg
NM_001370405.1:c.5096A>G	NP_001357334.1:p.His1699Arg
NM_001077183.3:c.5036A>G	NP_001070651.1:p.His1679Arg
NM_001114382.3:c.5168A>G	NP_001107854.1:p.His1723Arg
NM_001318827.2:c.4928A>G	NP_001305756.1:p.His1643Arg
NM_001318829.2:c.4892A>G	NP_001305758.1:p.His1631Arg
NM_001318831.2:c.4505A>G	NP_001305760.1:p.His1502Arg
NM_001318832.2:c.5069A>G	NP_001305761.1:p.His1690Arg
NM_001363528.2:c.5039A>G	NP_001350457.1:p.His1680Arg
NM_021055.3:c.5108A>G	NP_066399.2:p.His1703Arg