Canonical Allele Identifier: CA394314587

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138301G>C (hg19) ; chr16:g.2088300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088300G>C , CM000678.2:g.2088300G>C	GRCh38
NC_000016.9:g.2138301G>C , CM000678.1:g.2138301G>C	GRCh37
NC_000016.8:g.2078302G>C	NCBI36
NG_005895.1:g.43995G>C , LRG_487:g.43995G>C
NG_008617.1:g.54921C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3583G>C	ENSP00000455997.2:n.*3583G>C
ENST00000642206.2:c.5081G>C	ENSP00000495146.2:p.Arg1694Pro
ENST00000642365.2:c.5231G>C	ENSP00000495459.2:p.Arg1744Pro
ENST00000644417.2:c.*5747G>C	ENSP00000493912.2:n.*5747G>C
ENST00000646464.2:c.*7983G>C	ENSP00000496610.2:n.*7983G>C
ENST00000219476.9:c.5234G>C MANE Select	ENSP00000219476.3:p.Arg1745Pro
ENST00000350773.9:c.5165G>C	ENSP00000344383.4:p.Arg1722Pro
ENST00000401874.7:c.5033G>C	ENSP00000384468.2:p.Arg1678Pro
ENST00000568454.6:c.5066G>C	ENSP00000454487.1:p.Arg1689Pro
ENST00000569110.2:c.1457G>C
ENST00000569930.2:n.3116G>C
ENST00000642365.1:c.3888G>C
ENST00000642561.1:c.5093G>C	ENSP00000495099.1:p.Arg1698Pro
ENST00000642791.1:n.831G>C
ENST00000642797.1:c.5036G>C	ENSP00000493846.1:p.Arg1679Pro
ENST00000642936.1:c.5102G>C	ENSP00000494514.1:p.Arg1701Pro
ENST00000643088.1:c.5027G>C	ENSP00000494747.1:p.Arg1676Pro
ENST00000643426.1:n.2882G>C
ENST00000643946.1:c.5159G>C	ENSP00000495927.1:p.Arg1720Pro
ENST00000644043.1:c.5105G>C	ENSP00000496262.1:p.Arg1702Pro
ENST00000644329.1:c.5120G>C	ENSP00000496611.1:p.Arg1707Pro
ENST00000644335.1:c.5030G>C	ENSP00000496317.1:p.Arg1677Pro
ENST00000644399.1:c.5155G>C
ENST00000645024.1:n.3318G>C
ENST00000646388.1:c.5228G>C	ENSP00000495921.1:p.Arg1743Pro
ENST00000646634.1:n.4049G>C
ENST00000646674.1:n.2486G>C
ENST00000647042.1:n.2457G>C
ENST00000647180.1:n.2347G>C
ENST00000219476.7:c.5234G>C	ENSP00000219476.3:p.Arg1745Pro
ENST00000350773.8:c.5165G>C	ENSP00000344383.4:p.Arg1722Pro
ENST00000382538.10:c.4889G>C	ENSP00000371978.6:p.Arg1630Pro
ENST00000401874.6:c.5033G>C	ENSP00000384468.2:p.Arg1678Pro
ENST00000439117.6:c.*4401G>C	ENSP00000406980.2:n.*4401G>C
ENST00000439673.6:c.4925G>C	ENSP00000399232.2:p.Arg1642Pro
ENST00000497886.5:n.2957G>C
ENST00000568454.5:c.5066G>C	ENSP00000454487.1:p.Arg1689Pro
ENST00000569110.1:c.1416G>C
ENST00000569930.1:n.2349G>C
NM_000548.3:c.5234G>C , LRG_487t1:c.5234G>C	NP_000539.2:p.Arg1745Pro
NM_001077183.1:c.5033G>C	NP_001070651.1:p.Arg1678Pro
NM_001114382.1:c.5165G>C	NP_001107854.1:p.Arg1722Pro
XM_005255529.3:c.5105G>C	XP_005255586.2:p.Arg1702Pro
XM_005255531.3:c.5036G>C	XP_005255588.2:p.Arg1679Pro
XM_011522636.1:c.5288G>C	XP_011520938.1:p.Arg1763Pro
XM_011522637.1:c.5285G>C	XP_011520939.1:p.Arg1762Pro
XM_011522638.1:c.5177G>C	XP_011520940.1:p.Arg1726Pro
XM_011522639.1:c.5159G>C	XP_011520941.1:p.Arg1720Pro
XM_011522640.1:c.5156G>C	XP_011520942.1:p.Arg1719Pro
XM_011522641.1:c.4925G>C	XP_011520943.1:p.Arg1642Pro
NM_000548.4:c.5234G>C	NP_000539.2:p.Arg1745Pro
NM_001077183.2:c.5033G>C	NP_001070651.1:p.Arg1678Pro
NM_001114382.2:c.5165G>C	NP_001107854.1:p.Arg1722Pro
NM_001318827.1:c.4925G>C	NP_001305756.1:p.Arg1642Pro
NM_001318829.1:c.4889G>C	NP_001305758.1:p.Arg1630Pro
NM_001318831.1:c.4502G>C	NP_001305760.1:p.Arg1501Pro
NM_001318832.1:c.5066G>C	NP_001305761.1:p.Arg1689Pro
NM_001363528.1:c.5036G>C	NP_001350457.1:p.Arg1679Pro
NM_021055.2:c.5105G>C	NP_066399.2:p.Arg1702Pro
XM_005255531.4:c.5036G>C	XP_005255588.2:p.Arg1679Pro
XM_011522636.2:c.5288G>C	XP_011520938.1:p.Arg1763Pro
XM_011522637.2:c.5285G>C	XP_011520939.1:p.Arg1762Pro
XM_011522638.2:c.5450G>C	XP_011520940.2:p.Arg1817Pro
XM_011522639.2:c.5159G>C	XP_011520941.1:p.Arg1720Pro
XM_011522640.2:c.5156G>C	XP_011520942.1:p.Arg1719Pro
XM_017023615.1:c.5231G>C	XP_016879104.1:p.Arg1744Pro
XM_017023616.1:c.5102G>C	XP_016879105.1:p.Arg1701Pro
XM_017023617.1:c.5198G>C	XP_016879106.1:p.Arg1733Pro
XM_017023618.1:c.3944G>C	XP_016879107.1:p.Arg1315Pro
XM_024450413.1:c.5120G>C	XP_024306181.1:p.Arg1707Pro
NM_000548.5:c.5234G>C MANE Select	NP_000539.2:p.Arg1745Pro
NM_001370404.1:c.5102G>C	NP_001357333.1:p.Arg1701Pro
NM_001370405.1:c.5093G>C	NP_001357334.1:p.Arg1698Pro
NM_001077183.3:c.5033G>C	NP_001070651.1:p.Arg1678Pro
NM_001114382.3:c.5165G>C	NP_001107854.1:p.Arg1722Pro
NM_001318827.2:c.4925G>C	NP_001305756.1:p.Arg1642Pro
NM_001318829.2:c.4889G>C	NP_001305758.1:p.Arg1630Pro
NM_001318831.2:c.4502G>C	NP_001305760.1:p.Arg1501Pro
NM_001318832.2:c.5066G>C	NP_001305761.1:p.Arg1689Pro
NM_001363528.2:c.5036G>C	NP_001350457.1:p.Arg1679Pro
NM_021055.3:c.5105G>C	NP_066399.2:p.Arg1702Pro