Canonical Allele Identifier: CA394314659

Gene: TSC2

Linked Data

• dbSNP Id: rs2151632104
• MyVariant Identifiers: chr16:g.2138309A>T (hg19) ; chr16:g.2088308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088308A>T , CM000678.2:g.2088308A>T	GRCh38
NC_000016.9:g.2138309A>T , CM000678.1:g.2138309A>T	GRCh37
NC_000016.8:g.2078310A>T	NCBI36
NG_005895.1:g.44003A>T , LRG_487:g.44003A>T
NG_008617.1:g.54913T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3591A>T	ENSP00000455997.2:n.*3591A>T
ENST00000642206.2:c.5089A>T	ENSP00000495146.2:p.Lys1697Ter
ENST00000642365.2:c.5239A>T	ENSP00000495459.2:p.Lys1747Ter
ENST00000644417.2:c.*5755A>T	ENSP00000493912.2:n.*5755A>T
ENST00000646464.2:c.*7991A>T	ENSP00000496610.2:n.*7991A>T
ENST00000219476.9:c.5242A>T MANE Select	ENSP00000219476.3:p.Lys1748Ter
ENST00000350773.9:c.5173A>T	ENSP00000344383.4:p.Lys1725Ter
ENST00000401874.7:c.5041A>T	ENSP00000384468.2:p.Lys1681Ter
ENST00000568454.6:c.5074A>T	ENSP00000454487.1:p.Lys1692Ter
ENST00000569110.2:c.1465A>T
ENST00000569930.2:n.3124A>T
ENST00000642365.1:c.3896A>T
ENST00000642561.1:c.5101A>T	ENSP00000495099.1:p.Lys1701Ter
ENST00000642791.1:n.839A>T
ENST00000642797.1:c.5044A>T	ENSP00000493846.1:p.Lys1682Ter
ENST00000642936.1:c.5110A>T	ENSP00000494514.1:p.Lys1704Ter
ENST00000643088.1:c.5035A>T	ENSP00000494747.1:p.Lys1679Ter
ENST00000643426.1:n.2890A>T
ENST00000643946.1:c.5167A>T	ENSP00000495927.1:p.Lys1723Ter
ENST00000644043.1:c.5113A>T	ENSP00000496262.1:p.Lys1705Ter
ENST00000644329.1:c.5128A>T	ENSP00000496611.1:p.Lys1710Ter
ENST00000644335.1:c.5038A>T	ENSP00000496317.1:p.Lys1680Ter
ENST00000644399.1:c.5163A>T
ENST00000645024.1:n.3326A>T
ENST00000646388.1:c.5236A>T	ENSP00000495921.1:p.Lys1746Ter
ENST00000646634.1:n.4057A>T
ENST00000646674.1:n.2494A>T
ENST00000647042.1:n.2465A>T
ENST00000647180.1:n.2355A>T
ENST00000219476.7:c.5242A>T	ENSP00000219476.3:p.Lys1748Ter
ENST00000350773.8:c.5173A>T	ENSP00000344383.4:p.Lys1725Ter
ENST00000382538.10:c.4897A>T	ENSP00000371978.6:p.Lys1633Ter
ENST00000401874.6:c.5041A>T	ENSP00000384468.2:p.Lys1681Ter
ENST00000439117.6:c.*4409A>T	ENSP00000406980.2:n.*4409A>T
ENST00000439673.6:c.4933A>T	ENSP00000399232.2:p.Lys1645Ter
ENST00000497886.5:n.2965A>T
ENST00000568454.5:c.5074A>T	ENSP00000454487.1:p.Lys1692Ter
ENST00000569110.1:c.1424A>T
ENST00000569930.1:n.2357A>T
NM_000548.3:c.5242A>T , LRG_487t1:c.5242A>T	NP_000539.2:p.Lys1748Ter
NM_001077183.1:c.5041A>T	NP_001070651.1:p.Lys1681Ter
NM_001114382.1:c.5173A>T	NP_001107854.1:p.Lys1725Ter
XM_005255529.3:c.5113A>T	XP_005255586.2:p.Lys1705Ter
XM_005255531.3:c.5044A>T	XP_005255588.2:p.Lys1682Ter
XM_011522636.1:c.5296A>T	XP_011520938.1:p.Lys1766Ter
XM_011522637.1:c.5293A>T	XP_011520939.1:p.Lys1765Ter
XM_011522638.1:c.5185A>T	XP_011520940.1:p.Lys1729Ter
XM_011522639.1:c.5167A>T	XP_011520941.1:p.Lys1723Ter
XM_011522640.1:c.5164A>T	XP_011520942.1:p.Lys1722Ter
XM_011522641.1:c.4933A>T	XP_011520943.1:p.Lys1645Ter
NM_000548.4:c.5242A>T	NP_000539.2:p.Lys1748Ter
NM_001077183.2:c.5041A>T	NP_001070651.1:p.Lys1681Ter
NM_001114382.2:c.5173A>T	NP_001107854.1:p.Lys1725Ter
NM_001318827.1:c.4933A>T	NP_001305756.1:p.Lys1645Ter
NM_001318829.1:c.4897A>T	NP_001305758.1:p.Lys1633Ter
NM_001318831.1:c.4510A>T	NP_001305760.1:p.Lys1504Ter
NM_001318832.1:c.5074A>T	NP_001305761.1:p.Lys1692Ter
NM_001363528.1:c.5044A>T	NP_001350457.1:p.Lys1682Ter
NM_021055.2:c.5113A>T	NP_066399.2:p.Lys1705Ter
XM_005255531.4:c.5044A>T	XP_005255588.2:p.Lys1682Ter
XM_011522636.2:c.5296A>T	XP_011520938.1:p.Lys1766Ter
XM_011522637.2:c.5293A>T	XP_011520939.1:p.Lys1765Ter
XM_011522638.2:c.5458A>T	XP_011520940.2:p.Lys1820Ter
XM_011522639.2:c.5167A>T	XP_011520941.1:p.Lys1723Ter
XM_011522640.2:c.5164A>T	XP_011520942.1:p.Lys1722Ter
XM_017023615.1:c.5239A>T	XP_016879104.1:p.Lys1747Ter
XM_017023616.1:c.5110A>T	XP_016879105.1:p.Lys1704Ter
XM_017023617.1:c.5206A>T	XP_016879106.1:p.Lys1736Ter
XM_017023618.1:c.3952A>T	XP_016879107.1:p.Lys1318Ter
XM_024450413.1:c.5128A>T	XP_024306181.1:p.Lys1710Ter
NM_000548.5:c.5242A>T MANE Select	NP_000539.2:p.Lys1748Ter
NM_001370404.1:c.5110A>T	NP_001357333.1:p.Lys1704Ter
NM_001370405.1:c.5101A>T	NP_001357334.1:p.Lys1701Ter
NM_001077183.3:c.5041A>T	NP_001070651.1:p.Lys1681Ter
NM_001114382.3:c.5173A>T	NP_001107854.1:p.Lys1725Ter
NM_001318827.2:c.4933A>T	NP_001305756.1:p.Lys1645Ter
NM_001318829.2:c.4897A>T	NP_001305758.1:p.Lys1633Ter
NM_001318831.2:c.4510A>T	NP_001305760.1:p.Lys1504Ter
NM_001318832.2:c.5074A>T	NP_001305761.1:p.Lys1692Ter
NM_001363528.2:c.5044A>T	NP_001350457.1:p.Lys1682Ter
NM_021055.3:c.5113A>T	NP_066399.2:p.Lys1705Ter