Canonical Allele Identifier: CA394314530

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1503018
• ClinVar RCV Id: RCV002011137 ; RCV002337128
• dbSNP Id: rs1369101862
• gnomAD v2: 16-2138292-C-T
• MyVariant Identifiers: chr16:g.2138292C>T (hg19) ; chr16:g.2088291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088291C>T , CM000678.2:g.2088291C>T	GRCh38
NC_000016.9:g.2138292C>T , CM000678.1:g.2138292C>T	GRCh37
NC_000016.8:g.2078293C>T	NCBI36
NG_005895.1:g.43986C>T , LRG_487:g.43986C>T
NG_008617.1:g.54930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3574C>T	ENSP00000455997.2:n.*3574C>T
ENST00000642206.2:c.5072C>T	ENSP00000495146.2:p.Ala1691Val
ENST00000642365.2:c.5222C>T	ENSP00000495459.2:p.Ala1741Val
ENST00000644417.2:c.*5738C>T	ENSP00000493912.2:n.*5738C>T
ENST00000646464.2:c.*7974C>T	ENSP00000496610.2:n.*7974C>T
ENST00000219476.9:c.5225C>T MANE Select	ENSP00000219476.3:p.Ala1742Val
ENST00000350773.9:c.5156C>T	ENSP00000344383.4:p.Ala1719Val
ENST00000401874.7:c.5024C>T	ENSP00000384468.2:p.Ala1675Val
ENST00000568454.6:c.5057C>T	ENSP00000454487.1:p.Ala1686Val
ENST00000569110.2:c.1448C>T
ENST00000569930.2:n.3107C>T
ENST00000642365.1:c.3879C>T
ENST00000642561.1:c.5084C>T	ENSP00000495099.1:p.Ala1695Val
ENST00000642791.1:n.822C>T
ENST00000642797.1:c.5027C>T	ENSP00000493846.1:p.Ala1676Val
ENST00000642936.1:c.5093C>T	ENSP00000494514.1:p.Ala1698Val
ENST00000643088.1:c.5018C>T	ENSP00000494747.1:p.Ala1673Val
ENST00000643426.1:n.2873C>T
ENST00000643946.1:c.5150C>T	ENSP00000495927.1:p.Ala1717Val
ENST00000644043.1:c.5096C>T	ENSP00000496262.1:p.Ala1699Val
ENST00000644329.1:c.5111C>T	ENSP00000496611.1:p.Ala1704Val
ENST00000644335.1:c.5021C>T	ENSP00000496317.1:p.Ala1674Val
ENST00000644399.1:c.5146C>T
ENST00000645024.1:n.3309C>T
ENST00000646388.1:c.5219C>T	ENSP00000495921.1:p.Ala1740Val
ENST00000646634.1:n.4040C>T
ENST00000646674.1:n.2477C>T
ENST00000647042.1:n.2448C>T
ENST00000647180.1:n.2338C>T
ENST00000219476.7:c.5225C>T	ENSP00000219476.3:p.Ala1742Val
ENST00000350773.8:c.5156C>T	ENSP00000344383.4:p.Ala1719Val
ENST00000382538.10:c.4880C>T	ENSP00000371978.6:p.Ala1627Val
ENST00000401874.6:c.5024C>T	ENSP00000384468.2:p.Ala1675Val
ENST00000439117.6:c.*4392C>T	ENSP00000406980.2:n.*4392C>T
ENST00000439673.6:c.4916C>T	ENSP00000399232.2:p.Ala1639Val
ENST00000497886.5:n.2948C>T
ENST00000568454.5:c.5057C>T	ENSP00000454487.1:p.Ala1686Val
ENST00000569110.1:c.1407C>T
ENST00000569930.1:n.2340C>T
NM_000548.3:c.5225C>T , LRG_487t1:c.5225C>T	NP_000539.2:p.Ala1742Val
NM_001077183.1:c.5024C>T	NP_001070651.1:p.Ala1675Val
NM_001114382.1:c.5156C>T	NP_001107854.1:p.Ala1719Val
XM_005255529.3:c.5096C>T	XP_005255586.2:p.Ala1699Val
XM_005255531.3:c.5027C>T	XP_005255588.2:p.Ala1676Val
XM_011522636.1:c.5279C>T	XP_011520938.1:p.Ala1760Val
XM_011522637.1:c.5276C>T	XP_011520939.1:p.Ala1759Val
XM_011522638.1:c.5168C>T	XP_011520940.1:p.Ala1723Val
XM_011522639.1:c.5150C>T	XP_011520941.1:p.Ala1717Val
XM_011522640.1:c.5147C>T	XP_011520942.1:p.Ala1716Val
XM_011522641.1:c.4916C>T	XP_011520943.1:p.Ala1639Val
NM_000548.4:c.5225C>T	NP_000539.2:p.Ala1742Val
NM_001077183.2:c.5024C>T	NP_001070651.1:p.Ala1675Val
NM_001114382.2:c.5156C>T	NP_001107854.1:p.Ala1719Val
NM_001318827.1:c.4916C>T	NP_001305756.1:p.Ala1639Val
NM_001318829.1:c.4880C>T	NP_001305758.1:p.Ala1627Val
NM_001318831.1:c.4493C>T	NP_001305760.1:p.Ala1498Val
NM_001318832.1:c.5057C>T	NP_001305761.1:p.Ala1686Val
NM_001363528.1:c.5027C>T	NP_001350457.1:p.Ala1676Val
NM_021055.2:c.5096C>T	NP_066399.2:p.Ala1699Val
XM_005255531.4:c.5027C>T	XP_005255588.2:p.Ala1676Val
XM_011522636.2:c.5279C>T	XP_011520938.1:p.Ala1760Val
XM_011522637.2:c.5276C>T	XP_011520939.1:p.Ala1759Val
XM_011522638.2:c.5441C>T	XP_011520940.2:p.Ala1814Val
XM_011522639.2:c.5150C>T	XP_011520941.1:p.Ala1717Val
XM_011522640.2:c.5147C>T	XP_011520942.1:p.Ala1716Val
XM_017023615.1:c.5222C>T	XP_016879104.1:p.Ala1741Val
XM_017023616.1:c.5093C>T	XP_016879105.1:p.Ala1698Val
XM_017023617.1:c.5189C>T	XP_016879106.1:p.Ala1730Val
XM_017023618.1:c.3935C>T	XP_016879107.1:p.Ala1312Val
XM_024450413.1:c.5111C>T	XP_024306181.1:p.Ala1704Val
NM_000548.5:c.5225C>T MANE Select	NP_000539.2:p.Ala1742Val
NM_001370404.1:c.5093C>T	NP_001357333.1:p.Ala1698Val
NM_001370405.1:c.5084C>T	NP_001357334.1:p.Ala1695Val
NM_001077183.3:c.5024C>T	NP_001070651.1:p.Ala1675Val
NM_001114382.3:c.5156C>T	NP_001107854.1:p.Ala1719Val
NM_001318827.2:c.4916C>T	NP_001305756.1:p.Ala1639Val
NM_001318829.2:c.4880C>T	NP_001305758.1:p.Ala1627Val
NM_001318831.2:c.4493C>T	NP_001305760.1:p.Ala1498Val
NM_001318832.2:c.5057C>T	NP_001305761.1:p.Ala1686Val
NM_001363528.2:c.5027C>T	NP_001350457.1:p.Ala1676Val
NM_021055.3:c.5096C>T	NP_066399.2:p.Ala1699Val