Canonical Allele Identifier: CA394302913

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2428816
• ClinVar RCV Id: RCV003120417
• MyVariant Identifiers: chr16:g.2134995G>T (hg19) ; chr16:g.2084994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084994G>T , CM000678.2:g.2084994G>T	GRCh38
NC_000016.9:g.2134995G>T , CM000678.1:g.2134995G>T	GRCh37
NC_000016.8:g.2074996G>T	NCBI36
NG_005895.1:g.40689G>T , LRG_487:g.40689G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2886G>T	ENSP00000455997.2:n.*2886G>T
ENST00000642206.2:c.4384G>T	ENSP00000495146.2:p.Glu1462Ter
ENST00000642365.2:c.4534G>T	ENSP00000495459.2:p.Glu1512Ter
ENST00000644417.2:c.*4917G>T	ENSP00000493912.2:n.*4917G>T
ENST00000646464.2:c.*7286G>T	ENSP00000496610.2:n.*7286G>T
ENST00000219476.9:c.4537G>T MANE Select	ENSP00000219476.3:p.Glu1513Ter
ENST00000350773.9:c.4468G>T	ENSP00000344383.4:p.Glu1490Ter
ENST00000401874.7:c.4336G>T	ENSP00000384468.2:p.Glu1446Ter
ENST00000568454.6:c.4369G>T	ENSP00000454487.1:p.Glu1457Ter
ENST00000569110.2:c.760G>T
ENST00000569930.2:n.2419G>T
ENST00000642365.1:c.3191G>T
ENST00000642561.1:c.4408G>T	ENSP00000495099.1:p.Glu1470Ter
ENST00000642728.1:n.719G>T
ENST00000642797.1:c.4339G>T	ENSP00000493846.1:p.Glu1447Ter
ENST00000642936.1:c.4405G>T	ENSP00000494514.1:p.Glu1469Ter
ENST00000643088.1:c.4336G>T	ENSP00000494747.1:p.Glu1446Ter
ENST00000643177.1:n.551G>T
ENST00000643426.1:n.2185G>T
ENST00000643946.1:c.4468G>T	ENSP00000495927.1:p.Glu1490Ter
ENST00000644043.1:c.4408G>T	ENSP00000496262.1:p.Glu1470Ter
ENST00000644329.1:c.4336G>T	ENSP00000496611.1:p.Glu1446Ter
ENST00000644335.1:c.4339G>T	ENSP00000496317.1:p.Glu1447Ter
ENST00000644399.1:c.4458G>T
ENST00000645024.1:n.2621G>T
ENST00000646388.1:c.4537G>T	ENSP00000495921.1:p.Glu1513Ter
ENST00000646634.1:n.3352G>T
ENST00000646674.1:n.1789G>T
ENST00000647042.1:n.1760G>T
ENST00000647180.1:n.1650G>T
ENST00000219476.7:c.4537G>T	ENSP00000219476.3:p.Glu1513Ter
ENST00000350773.8:c.4468G>T	ENSP00000344383.4:p.Glu1490Ter
ENST00000382538.10:c.4192G>T	ENSP00000371978.6:p.Glu1398Ter
ENST00000401874.6:c.4336G>T	ENSP00000384468.2:p.Glu1446Ter
ENST00000439117.6:c.*3704G>T	ENSP00000406980.2:n.*3704G>T
ENST00000439673.6:c.4228G>T	ENSP00000399232.2:p.Glu1410Ter
ENST00000497886.5:n.2295G>T
ENST00000568454.5:c.4369G>T	ENSP00000454487.1:p.Glu1457Ter
ENST00000569110.1:c.719G>T
ENST00000569930.1:n.1652G>T
NM_000548.3:c.4537G>T , LRG_487t1:c.4537G>T	NP_000539.2:p.Glu1513Ter
NM_001077183.1:c.4336G>T	NP_001070651.1:p.Glu1446Ter
NM_001114382.1:c.4468G>T	NP_001107854.1:p.Glu1490Ter
XM_005255529.3:c.4408G>T	XP_005255586.2:p.Glu1470Ter
XM_005255531.3:c.4339G>T	XP_005255588.2:p.Glu1447Ter
XM_011522636.1:c.4591G>T	XP_011520938.1:p.Glu1531Ter
XM_011522637.1:c.4588G>T	XP_011520939.1:p.Glu1530Ter
XM_011522638.1:c.4480G>T	XP_011520940.1:p.Glu1494Ter
XM_011522639.1:c.4462G>T	XP_011520941.1:p.Glu1488Ter
XM_011522640.1:c.4459G>T	XP_011520942.1:p.Glu1487Ter
XM_011522641.1:c.4228G>T	XP_011520943.1:p.Glu1410Ter
NM_000548.4:c.4537G>T	NP_000539.2:p.Glu1513Ter
NM_001077183.2:c.4336G>T	NP_001070651.1:p.Glu1446Ter
NM_001114382.2:c.4468G>T	NP_001107854.1:p.Glu1490Ter
NM_001318827.1:c.4228G>T	NP_001305756.1:p.Glu1410Ter
NM_001318829.1:c.4192G>T	NP_001305758.1:p.Glu1398Ter
NM_001318831.1:c.3805G>T	NP_001305760.1:p.Glu1269Ter
NM_001318832.1:c.4369G>T	NP_001305761.1:p.Glu1457Ter
NM_001363528.1:c.4339G>T	NP_001350457.1:p.Glu1447Ter
NM_021055.2:c.4408G>T	NP_066399.2:p.Glu1470Ter
XM_005255531.4:c.4339G>T	XP_005255588.2:p.Glu1447Ter
XM_011522636.2:c.4591G>T	XP_011520938.1:p.Glu1531Ter
XM_011522637.2:c.4588G>T	XP_011520939.1:p.Glu1530Ter
XM_011522638.2:c.4753G>T	XP_011520940.2:p.Glu1585Ter
XM_011522639.2:c.4462G>T	XP_011520941.1:p.Glu1488Ter
XM_011522640.2:c.4459G>T	XP_011520942.1:p.Glu1487Ter
XM_017023615.1:c.4534G>T	XP_016879104.1:p.Glu1512Ter
XM_017023616.1:c.4405G>T	XP_016879105.1:p.Glu1469Ter
XM_017023617.1:c.4501G>T	XP_016879106.1:p.Glu1501Ter
XM_017023618.1:c.3247G>T	XP_016879107.1:p.Glu1083Ter
XM_024450413.1:c.4336G>T	XP_024306181.1:p.Glu1446Ter
NM_000548.5:c.4537G>T MANE Select	NP_000539.2:p.Glu1513Ter
NM_001370404.1:c.4405G>T	NP_001357333.1:p.Glu1469Ter
NM_001370405.1:c.4408G>T	NP_001357334.1:p.Glu1470Ter
NM_001077183.3:c.4336G>T	NP_001070651.1:p.Glu1446Ter
NM_001114382.3:c.4468G>T	NP_001107854.1:p.Glu1490Ter
NM_001318827.2:c.4228G>T	NP_001305756.1:p.Glu1410Ter
NM_001318829.2:c.4192G>T	NP_001305758.1:p.Glu1398Ter
NM_001318831.2:c.3805G>T	NP_001305760.1:p.Glu1269Ter
NM_001318832.2:c.4369G>T	NP_001305761.1:p.Glu1457Ter
NM_001363528.2:c.4339G>T	NP_001350457.1:p.Glu1447Ter
NM_021055.3:c.4408G>T	NP_066399.2:p.Glu1470Ter