Canonical Allele Identifier: CA394315700

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2039590
• ClinVar RCV Id: RCV002900008
• dbSNP Id: rs2091206453
• COSMIC: COSM1581881 ; COSM1581882
• MyVariant Identifiers: chr16:g.2138532C>T (hg19) ; chr16:g.2088531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088531C>T , CM000678.2:g.2088531C>T	GRCh38
NC_000016.9:g.2138532C>T , CM000678.1:g.2138532C>T	GRCh37
NC_000016.8:g.2078533C>T	NCBI36
NG_005895.1:g.44226C>T , LRG_487:g.44226C>T
NG_008617.1:g.54690G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3694C>T	ENSP00000455997.2:n.*3694C>T
ENST00000642206.2:c.5192C>T	ENSP00000495146.2:p.Ala1731Val
ENST00000642365.2:c.5342C>T	ENSP00000495459.2:p.Ala1781Val
ENST00000644417.2:c.*5858C>T	ENSP00000493912.2:n.*5858C>T
ENST00000646464.2:c.*8094C>T	ENSP00000496610.2:n.*8094C>T
ENST00000219476.9:c.5345C>T MANE Select	ENSP00000219476.3:p.Ala1782Val
ENST00000350773.9:c.5276C>T	ENSP00000344383.4:p.Ala1759Val
ENST00000401874.7:c.5144C>T	ENSP00000384468.2:p.Ala1715Val
ENST00000568454.6:c.5177C>T	ENSP00000454487.1:p.Ala1726Val
ENST00000569110.2:c.1568C>T
ENST00000569930.2:n.3227C>T
ENST00000642365.1:c.3999C>T
ENST00000642561.1:c.5204C>T	ENSP00000495099.1:p.Ala1735Val
ENST00000642791.1:n.942C>T
ENST00000642797.1:c.5147C>T	ENSP00000493846.1:p.Ala1716Val
ENST00000642936.1:c.5213C>T	ENSP00000494514.1:p.Ala1738Val
ENST00000643088.1:c.5138C>T	ENSP00000494747.1:p.Ala1713Val
ENST00000643426.1:n.2993C>T
ENST00000643946.1:c.5270C>T	ENSP00000495927.1:p.Ala1757Val
ENST00000644043.1:c.5216C>T	ENSP00000496262.1:p.Ala1739Val
ENST00000644329.1:c.5231C>T	ENSP00000496611.1:p.Ala1744Val
ENST00000644335.1:c.5141C>T	ENSP00000496317.1:p.Ala1714Val
ENST00000644399.1:c.5266C>T
ENST00000645024.1:n.3429C>T
ENST00000646388.1:c.5339C>T	ENSP00000495921.1:p.Ala1780Val
ENST00000646634.1:n.4160C>T
ENST00000646674.1:n.2597C>T
ENST00000647042.1:n.2568C>T
ENST00000647180.1:n.2458C>T
ENST00000219476.7:c.5345C>T	ENSP00000219476.3:p.Ala1782Val
ENST00000350773.8:c.5276C>T	ENSP00000344383.4:p.Ala1759Val
ENST00000382538.10:c.5000C>T	ENSP00000371978.6:p.Ala1667Val
ENST00000401874.6:c.5144C>T	ENSP00000384468.2:p.Ala1715Val
ENST00000439117.6:c.*4512C>T	ENSP00000406980.2:n.*4512C>T
ENST00000439673.6:c.5036C>T	ENSP00000399232.2:p.Ala1679Val
ENST00000497886.5:n.3068C>T
ENST00000568454.5:c.5177C>T	ENSP00000454487.1:p.Ala1726Val
ENST00000569110.1:c.1527C>T
ENST00000569930.1:n.2460C>T
NM_000548.3:c.5345C>T , LRG_487t1:c.5345C>T	NP_000539.2:p.Ala1782Val
NM_001077183.1:c.5144C>T	NP_001070651.1:p.Ala1715Val
NM_001114382.1:c.5276C>T	NP_001107854.1:p.Ala1759Val
XM_005255529.3:c.5216C>T	XP_005255586.2:p.Ala1739Val
XM_005255531.3:c.5147C>T	XP_005255588.2:p.Ala1716Val
XM_011522636.1:c.5399C>T	XP_011520938.1:p.Ala1800Val
XM_011522637.1:c.5396C>T	XP_011520939.1:p.Ala1799Val
XM_011522638.1:c.5288C>T	XP_011520940.1:p.Ala1763Val
XM_011522639.1:c.5270C>T	XP_011520941.1:p.Ala1757Val
XM_011522640.1:c.5267C>T	XP_011520942.1:p.Ala1756Val
XM_011522641.1:c.5036C>T	XP_011520943.1:p.Ala1679Val
NM_000548.4:c.5345C>T	NP_000539.2:p.Ala1782Val
NM_001077183.2:c.5144C>T	NP_001070651.1:p.Ala1715Val
NM_001114382.2:c.5276C>T	NP_001107854.1:p.Ala1759Val
NM_001318827.1:c.5036C>T	NP_001305756.1:p.Ala1679Val
NM_001318829.1:c.5000C>T	NP_001305758.1:p.Ala1667Val
NM_001318831.1:c.4613C>T	NP_001305760.1:p.Ala1538Val
NM_001318832.1:c.5177C>T	NP_001305761.1:p.Ala1726Val
NM_001363528.1:c.5147C>T	NP_001350457.1:p.Ala1716Val
NM_021055.2:c.5216C>T	NP_066399.2:p.Ala1739Val
XM_005255531.4:c.5147C>T	XP_005255588.2:p.Ala1716Val
XM_011522636.2:c.5399C>T	XP_011520938.1:p.Ala1800Val
XM_011522637.2:c.5396C>T	XP_011520939.1:p.Ala1799Val
XM_011522638.2:c.5561C>T	XP_011520940.2:p.Ala1854Val
XM_011522639.2:c.5270C>T	XP_011520941.1:p.Ala1757Val
XM_011522640.2:c.5267C>T	XP_011520942.1:p.Ala1756Val
XM_017023615.1:c.5342C>T	XP_016879104.1:p.Ala1781Val
XM_017023616.1:c.5213C>T	XP_016879105.1:p.Ala1738Val
XM_017023617.1:c.5309C>T	XP_016879106.1:p.Ala1770Val
XM_017023618.1:c.4055C>T	XP_016879107.1:p.Ala1352Val
XM_024450413.1:c.5231C>T	XP_024306181.1:p.Ala1744Val
NM_000548.5:c.5345C>T MANE Select	NP_000539.2:p.Ala1782Val
NM_001370404.1:c.5213C>T	NP_001357333.1:p.Ala1738Val
NM_001370405.1:c.5204C>T	NP_001357334.1:p.Ala1735Val
NM_001077183.3:c.5144C>T	NP_001070651.1:p.Ala1715Val
NM_001114382.3:c.5276C>T	NP_001107854.1:p.Ala1759Val
NM_001318827.2:c.5036C>T	NP_001305756.1:p.Ala1679Val
NM_001318829.2:c.5000C>T	NP_001305758.1:p.Ala1667Val
NM_001318831.2:c.4613C>T	NP_001305760.1:p.Ala1538Val
NM_001318832.2:c.5177C>T	NP_001305761.1:p.Ala1726Val
NM_001363528.2:c.5147C>T	NP_001350457.1:p.Ala1716Val
NM_021055.3:c.5216C>T	NP_066399.2:p.Ala1739Val