Canonical Allele Identifier: CA394314094

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1056977
• ClinVar RCV Id: RCV001365885
• dbSNP Id: rs1596460080
• MyVariant Identifiers: chr16:g.2138247A>T (hg19) ; chr16:g.2088246A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088246A>T , CM000678.2:g.2088246A>T	GRCh38
NC_000016.9:g.2138247A>T , CM000678.1:g.2138247A>T	GRCh37
NC_000016.8:g.2078248A>T	NCBI36
NG_005895.1:g.43941A>T , LRG_487:g.43941A>T
NG_008617.1:g.54975T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3529A>T	ENSP00000455997.2:n.*3529A>T
ENST00000642206.2:c.5027A>T	ENSP00000495146.2:p.His1676Leu
ENST00000642365.2:c.5177A>T	ENSP00000495459.2:p.His1726Leu
ENST00000644417.2:c.*5693A>T	ENSP00000493912.2:n.*5693A>T
ENST00000646464.2:c.*7929A>T	ENSP00000496610.2:n.*7929A>T
ENST00000219476.9:c.5180A>T MANE Select	ENSP00000219476.3:p.His1727Leu
ENST00000350773.9:c.5111A>T	ENSP00000344383.4:p.His1704Leu
ENST00000401874.7:c.4979A>T	ENSP00000384468.2:p.His1660Leu
ENST00000568454.6:c.5012A>T	ENSP00000454487.1:p.His1671Leu
ENST00000569110.2:c.1403A>T
ENST00000569930.2:n.3062A>T
ENST00000642365.1:c.3834A>T
ENST00000642561.1:c.5039A>T	ENSP00000495099.1:p.His1680Leu
ENST00000642791.1:n.777A>T
ENST00000642797.1:c.4982A>T	ENSP00000493846.1:p.His1661Leu
ENST00000642936.1:c.5048A>T	ENSP00000494514.1:p.His1683Leu
ENST00000643088.1:c.4973A>T	ENSP00000494747.1:p.His1658Leu
ENST00000643426.1:n.2828A>T
ENST00000643946.1:c.5105A>T	ENSP00000495927.1:p.His1702Leu
ENST00000644043.1:c.5051A>T	ENSP00000496262.1:p.His1684Leu
ENST00000644329.1:c.5066A>T	ENSP00000496611.1:p.His1689Leu
ENST00000644335.1:c.4976A>T	ENSP00000496317.1:p.His1659Leu
ENST00000644399.1:c.5101A>T
ENST00000645024.1:n.3264A>T
ENST00000646388.1:c.5174A>T	ENSP00000495921.1:p.His1725Leu
ENST00000646634.1:n.3995A>T
ENST00000646674.1:n.2432A>T
ENST00000647042.1:n.2403A>T
ENST00000647180.1:n.2293A>T
ENST00000219476.7:c.5180A>T	ENSP00000219476.3:p.His1727Leu
ENST00000350773.8:c.5111A>T	ENSP00000344383.4:p.His1704Leu
ENST00000382538.10:c.4835A>T	ENSP00000371978.6:p.His1612Leu
ENST00000401874.6:c.4979A>T	ENSP00000384468.2:p.His1660Leu
ENST00000439117.6:c.*4347A>T	ENSP00000406980.2:n.*4347A>T
ENST00000439673.6:c.4871A>T	ENSP00000399232.2:p.His1624Leu
ENST00000497886.5:n.2903A>T
ENST00000568454.5:c.5012A>T	ENSP00000454487.1:p.His1671Leu
ENST00000569110.1:c.1362A>T
ENST00000569930.1:n.2295A>T
NM_000548.3:c.5180A>T , LRG_487t1:c.5180A>T	NP_000539.2:p.His1727Leu
NM_001077183.1:c.4979A>T	NP_001070651.1:p.His1660Leu
NM_001114382.1:c.5111A>T	NP_001107854.1:p.His1704Leu
XM_005255529.3:c.5051A>T	XP_005255586.2:p.His1684Leu
XM_005255531.3:c.4982A>T	XP_005255588.2:p.His1661Leu
XM_011522636.1:c.5234A>T	XP_011520938.1:p.His1745Leu
XM_011522637.1:c.5231A>T	XP_011520939.1:p.His1744Leu
XM_011522638.1:c.5123A>T	XP_011520940.1:p.His1708Leu
XM_011522639.1:c.5105A>T	XP_011520941.1:p.His1702Leu
XM_011522640.1:c.5102A>T	XP_011520942.1:p.His1701Leu
XM_011522641.1:c.4871A>T	XP_011520943.1:p.His1624Leu
NM_000548.4:c.5180A>T	NP_000539.2:p.His1727Leu
NM_001077183.2:c.4979A>T	NP_001070651.1:p.His1660Leu
NM_001114382.2:c.5111A>T	NP_001107854.1:p.His1704Leu
NM_001318827.1:c.4871A>T	NP_001305756.1:p.His1624Leu
NM_001318829.1:c.4835A>T	NP_001305758.1:p.His1612Leu
NM_001318831.1:c.4448A>T	NP_001305760.1:p.His1483Leu
NM_001318832.1:c.5012A>T	NP_001305761.1:p.His1671Leu
NM_001363528.1:c.4982A>T	NP_001350457.1:p.His1661Leu
NM_021055.2:c.5051A>T	NP_066399.2:p.His1684Leu
XM_005255531.4:c.4982A>T	XP_005255588.2:p.His1661Leu
XM_011522636.2:c.5234A>T	XP_011520938.1:p.His1745Leu
XM_011522637.2:c.5231A>T	XP_011520939.1:p.His1744Leu
XM_011522638.2:c.5396A>T	XP_011520940.2:p.His1799Leu
XM_011522639.2:c.5105A>T	XP_011520941.1:p.His1702Leu
XM_011522640.2:c.5102A>T	XP_011520942.1:p.His1701Leu
XM_017023615.1:c.5177A>T	XP_016879104.1:p.His1726Leu
XM_017023616.1:c.5048A>T	XP_016879105.1:p.His1683Leu
XM_017023617.1:c.5144A>T	XP_016879106.1:p.His1715Leu
XM_017023618.1:c.3890A>T	XP_016879107.1:p.His1297Leu
XM_024450413.1:c.5066A>T	XP_024306181.1:p.His1689Leu
NM_000548.5:c.5180A>T MANE Select	NP_000539.2:p.His1727Leu
NM_001370404.1:c.5048A>T	NP_001357333.1:p.His1683Leu
NM_001370405.1:c.5039A>T	NP_001357334.1:p.His1680Leu
NM_001077183.3:c.4979A>T	NP_001070651.1:p.His1660Leu
NM_001114382.3:c.5111A>T	NP_001107854.1:p.His1704Leu
NM_001318827.2:c.4871A>T	NP_001305756.1:p.His1624Leu
NM_001318829.2:c.4835A>T	NP_001305758.1:p.His1612Leu
NM_001318831.2:c.4448A>T	NP_001305760.1:p.His1483Leu
NM_001318832.2:c.5012A>T	NP_001305761.1:p.His1671Leu
NM_001363528.2:c.4982A>T	NP_001350457.1:p.His1661Leu
NM_021055.3:c.5051A>T	NP_066399.2:p.His1684Leu