Canonical Allele Identifier: CA394315696

Gene: TSC2

Linked Data

• ClinVar Variation Id: 574864
• ClinVar RCV Id: RCV002343495 ; RCV002477587
• dbSNP Id: rs1405712076
• gnomAD v4: 16-2088530-G-T
• MyVariant Identifiers: chr16:g.2138531G>T (hg19) ; chr16:g.2088530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088530G>T , CM000678.2:g.2088530G>T	GRCh38
NC_000016.9:g.2138531G>T , CM000678.1:g.2138531G>T	GRCh37
NC_000016.8:g.2078532G>T	NCBI36
NG_005895.1:g.44225G>T , LRG_487:g.44225G>T
NG_008617.1:g.54691C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3693G>T	ENSP00000455997.2:n.*3693G>T
ENST00000642206.2:c.5191G>T	ENSP00000495146.2:p.Ala1731Ser
ENST00000642365.2:c.5341G>T	ENSP00000495459.2:p.Ala1781Ser
ENST00000644417.2:c.*5857G>T	ENSP00000493912.2:n.*5857G>T
ENST00000646464.2:c.*8093G>T	ENSP00000496610.2:n.*8093G>T
ENST00000219476.9:c.5344G>T MANE Select	ENSP00000219476.3:p.Ala1782Ser
ENST00000350773.9:c.5275G>T	ENSP00000344383.4:p.Ala1759Ser
ENST00000401874.7:c.5143G>T	ENSP00000384468.2:p.Ala1715Ser
ENST00000568454.6:c.5176G>T	ENSP00000454487.1:p.Ala1726Ser
ENST00000569110.2:c.1567G>T
ENST00000569930.2:n.3226G>T
ENST00000642365.1:c.3998G>T
ENST00000642561.1:c.5203G>T	ENSP00000495099.1:p.Ala1735Ser
ENST00000642791.1:n.941G>T
ENST00000642797.1:c.5146G>T	ENSP00000493846.1:p.Ala1716Ser
ENST00000642936.1:c.5212G>T	ENSP00000494514.1:p.Ala1738Ser
ENST00000643088.1:c.5137G>T	ENSP00000494747.1:p.Ala1713Ser
ENST00000643426.1:n.2992G>T
ENST00000643946.1:c.5269G>T	ENSP00000495927.1:p.Ala1757Ser
ENST00000644043.1:c.5215G>T	ENSP00000496262.1:p.Ala1739Ser
ENST00000644329.1:c.5230G>T	ENSP00000496611.1:p.Ala1744Ser
ENST00000644335.1:c.5140G>T	ENSP00000496317.1:p.Ala1714Ser
ENST00000644399.1:c.5265G>T
ENST00000645024.1:n.3428G>T
ENST00000646388.1:c.5338G>T	ENSP00000495921.1:p.Ala1780Ser
ENST00000646634.1:n.4159G>T
ENST00000646674.1:n.2596G>T
ENST00000647042.1:n.2567G>T
ENST00000647180.1:n.2457G>T
ENST00000219476.7:c.5344G>T	ENSP00000219476.3:p.Ala1782Ser
ENST00000350773.8:c.5275G>T	ENSP00000344383.4:p.Ala1759Ser
ENST00000382538.10:c.4999G>T	ENSP00000371978.6:p.Ala1667Ser
ENST00000401874.6:c.5143G>T	ENSP00000384468.2:p.Ala1715Ser
ENST00000439117.6:c.*4511G>T	ENSP00000406980.2:n.*4511G>T
ENST00000439673.6:c.5035G>T	ENSP00000399232.2:p.Ala1679Ser
ENST00000497886.5:n.3067G>T
ENST00000568454.5:c.5176G>T	ENSP00000454487.1:p.Ala1726Ser
ENST00000569110.1:c.1526G>T
ENST00000569930.1:n.2459G>T
NM_000548.3:c.5344G>T , LRG_487t1:c.5344G>T	NP_000539.2:p.Ala1782Ser
NM_001077183.1:c.5143G>T	NP_001070651.1:p.Ala1715Ser
NM_001114382.1:c.5275G>T	NP_001107854.1:p.Ala1759Ser
XM_005255529.3:c.5215G>T	XP_005255586.2:p.Ala1739Ser
XM_005255531.3:c.5146G>T	XP_005255588.2:p.Ala1716Ser
XM_011522636.1:c.5398G>T	XP_011520938.1:p.Ala1800Ser
XM_011522637.1:c.5395G>T	XP_011520939.1:p.Ala1799Ser
XM_011522638.1:c.5287G>T	XP_011520940.1:p.Ala1763Ser
XM_011522639.1:c.5269G>T	XP_011520941.1:p.Ala1757Ser
XM_011522640.1:c.5266G>T	XP_011520942.1:p.Ala1756Ser
XM_011522641.1:c.5035G>T	XP_011520943.1:p.Ala1679Ser
NM_000548.4:c.5344G>T	NP_000539.2:p.Ala1782Ser
NM_001077183.2:c.5143G>T	NP_001070651.1:p.Ala1715Ser
NM_001114382.2:c.5275G>T	NP_001107854.1:p.Ala1759Ser
NM_001318827.1:c.5035G>T	NP_001305756.1:p.Ala1679Ser
NM_001318829.1:c.4999G>T	NP_001305758.1:p.Ala1667Ser
NM_001318831.1:c.4612G>T	NP_001305760.1:p.Ala1538Ser
NM_001318832.1:c.5176G>T	NP_001305761.1:p.Ala1726Ser
NM_001363528.1:c.5146G>T	NP_001350457.1:p.Ala1716Ser
NM_021055.2:c.5215G>T	NP_066399.2:p.Ala1739Ser
XM_005255531.4:c.5146G>T	XP_005255588.2:p.Ala1716Ser
XM_011522636.2:c.5398G>T	XP_011520938.1:p.Ala1800Ser
XM_011522637.2:c.5395G>T	XP_011520939.1:p.Ala1799Ser
XM_011522638.2:c.5560G>T	XP_011520940.2:p.Ala1854Ser
XM_011522639.2:c.5269G>T	XP_011520941.1:p.Ala1757Ser
XM_011522640.2:c.5266G>T	XP_011520942.1:p.Ala1756Ser
XM_017023615.1:c.5341G>T	XP_016879104.1:p.Ala1781Ser
XM_017023616.1:c.5212G>T	XP_016879105.1:p.Ala1738Ser
XM_017023617.1:c.5308G>T	XP_016879106.1:p.Ala1770Ser
XM_017023618.1:c.4054G>T	XP_016879107.1:p.Ala1352Ser
XM_024450413.1:c.5230G>T	XP_024306181.1:p.Ala1744Ser
NM_000548.5:c.5344G>T MANE Select	NP_000539.2:p.Ala1782Ser
NM_001370404.1:c.5212G>T	NP_001357333.1:p.Ala1738Ser
NM_001370405.1:c.5203G>T	NP_001357334.1:p.Ala1735Ser
NM_001077183.3:c.5143G>T	NP_001070651.1:p.Ala1715Ser
NM_001114382.3:c.5275G>T	NP_001107854.1:p.Ala1759Ser
NM_001318827.2:c.5035G>T	NP_001305756.1:p.Ala1679Ser
NM_001318829.2:c.4999G>T	NP_001305758.1:p.Ala1667Ser
NM_001318831.2:c.4612G>T	NP_001305760.1:p.Ala1538Ser
NM_001318832.2:c.5176G>T	NP_001305761.1:p.Ala1726Ser
NM_001363528.2:c.5146G>T	NP_001350457.1:p.Ala1716Ser
NM_021055.3:c.5215G>T	NP_066399.2:p.Ala1739Ser