Canonical Allele Identifier: CA019722

Gene: TSC2

Linked Data

• ClinVar Variation Id: 64947
• ClinVar RCV Id: RCV000055150 ; RCV001853088 ; RCV002371894
• dbSNP Id: rs397514916
• MyVariant Identifiers: chr16:g.2133755C>T (hg19) ; chr16:g.2083754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2083754C>T , CM000678.2:g.2083754C>T	GRCh38
NC_000016.9:g.2133755C>T , CM000678.1:g.2133755C>T	GRCh37
NC_000016.8:g.2073756C>T	NCBI36
NG_005895.1:g.39449C>T , LRG_487:g.39449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2292C>T	ENSP00000455997.2:n.*2292C>T
ENST00000642206.2:c.3790C>T	ENSP00000495146.2:p.Pro1264Ser
ENST00000642365.2:c.3940C>T	ENSP00000495459.2:p.Pro1314Ser
ENST00000644417.2:c.*4323C>T	ENSP00000493912.2:n.*4323C>T
ENST00000646464.2:c.*6692C>T	ENSP00000496610.2:n.*6692C>T
ENST00000219476.9:c.3943C>T MANE Select	ENSP00000219476.3:p.Pro1315Ser
ENST00000350773.9:c.3874C>T	ENSP00000344383.4:p.Pro1292Ser
ENST00000401874.7:c.3742C>T	ENSP00000384468.2:p.Pro1248Ser
ENST00000568454.6:c.3775C>T	ENSP00000454487.1:p.Pro1259Ser
ENST00000569110.2:c.179C>T
ENST00000569930.2:n.1825C>T
ENST00000642365.1:c.2597C>T
ENST00000642561.1:c.3814C>T	ENSP00000495099.1:p.Pro1272Ser
ENST00000642728.1:n.125C>T
ENST00000642797.1:c.3745C>T	ENSP00000493846.1:p.Pro1249Ser
ENST00000642936.1:c.3811C>T	ENSP00000494514.1:p.Pro1271Ser
ENST00000643088.1:c.3742C>T	ENSP00000494747.1:p.Pro1248Ser
ENST00000643426.1:n.1591C>T
ENST00000643533.1:n.384C>T
ENST00000643946.1:c.3874C>T	ENSP00000495927.1:p.Pro1292Ser
ENST00000644043.1:c.3814C>T	ENSP00000496262.1:p.Pro1272Ser
ENST00000644329.1:c.3742C>T	ENSP00000496611.1:p.Pro1248Ser
ENST00000644335.1:c.3745C>T	ENSP00000496317.1:p.Pro1249Ser
ENST00000644399.1:c.3864C>T
ENST00000645024.1:n.2027C>T
ENST00000645186.1:c.186C>T
ENST00000646388.1:c.3943C>T	ENSP00000495921.1:p.Pro1315Ser
ENST00000646634.1:n.2758C>T
ENST00000646674.1:n.1195C>T
ENST00000647042.1:n.1166C>T
ENST00000647180.1:n.1056C>T
ENST00000219476.7:c.3943C>T	ENSP00000219476.3:p.Pro1315Ser
ENST00000350773.8:c.3874C>T	ENSP00000344383.4:p.Pro1292Ser
ENST00000382538.10:c.3598C>T	ENSP00000371978.6:p.Pro1200Ser
ENST00000401874.6:c.3742C>T	ENSP00000384468.2:p.Pro1248Ser
ENST00000439117.6:c.*3110C>T	ENSP00000406980.2:n.*3110C>T
ENST00000439673.6:c.3634C>T	ENSP00000399232.2:p.Pro1212Ser
ENST00000497886.5:n.1701C>T
ENST00000568454.5:c.3775C>T	ENSP00000454487.1:p.Pro1259Ser
ENST00000569110.1:c.125C>T
ENST00000569930.1:n.1058C>T
NM_000548.3:c.3943C>T , LRG_487t1:c.3943C>T	NP_000539.2:p.Pro1315Ser
NM_001077183.1:c.3742C>T	NP_001070651.1:p.Pro1248Ser
NM_001114382.1:c.3874C>T	NP_001107854.1:p.Pro1292Ser
XM_005255529.3:c.3814C>T	XP_005255586.2:p.Pro1272Ser
XM_005255531.3:c.3745C>T	XP_005255588.2:p.Pro1249Ser
XM_011522636.1:c.3997C>T	XP_011520938.1:p.Pro1333Ser
XM_011522637.1:c.3994C>T	XP_011520939.1:p.Pro1332Ser
XM_011522638.1:c.3886C>T	XP_011520940.1:p.Pro1296Ser
XM_011522639.1:c.3868C>T	XP_011520941.1:p.Pro1290Ser
XM_011522640.1:c.3865C>T	XP_011520942.1:p.Pro1289Ser
XM_011522641.1:c.3634C>T	XP_011520943.1:p.Pro1212Ser
NM_000548.4:c.3943C>T	NP_000539.2:p.Pro1315Ser
NM_001077183.2:c.3742C>T	NP_001070651.1:p.Pro1248Ser
NM_001114382.2:c.3874C>T	NP_001107854.1:p.Pro1292Ser
NM_001318827.1:c.3634C>T	NP_001305756.1:p.Pro1212Ser
NM_001318829.1:c.3598C>T	NP_001305758.1:p.Pro1200Ser
NM_001318831.1:c.3211C>T	NP_001305760.1:p.Pro1071Ser
NM_001318832.1:c.3775C>T	NP_001305761.1:p.Pro1259Ser
NM_001363528.1:c.3745C>T	NP_001350457.1:p.Pro1249Ser
NM_021055.2:c.3814C>T	NP_066399.2:p.Pro1272Ser
XM_005255531.4:c.3745C>T	XP_005255588.2:p.Pro1249Ser
XM_011522636.2:c.3997C>T	XP_011520938.1:p.Pro1333Ser
XM_011522637.2:c.3994C>T	XP_011520939.1:p.Pro1332Ser
XM_011522638.2:c.4159C>T	XP_011520940.2:p.Pro1387Ser
XM_011522639.2:c.3868C>T	XP_011520941.1:p.Pro1290Ser
XM_011522640.2:c.3865C>T	XP_011520942.1:p.Pro1289Ser
XM_017023615.1:c.3940C>T	XP_016879104.1:p.Pro1314Ser
XM_017023616.1:c.3811C>T	XP_016879105.1:p.Pro1271Ser
XM_017023617.1:c.3907C>T	XP_016879106.1:p.Pro1303Ser
XM_017023618.1:c.2653C>T	XP_016879107.1:p.Pro885Ser
XM_024450413.1:c.3742C>T	XP_024306181.1:p.Pro1248Ser
NM_000548.5:c.3943C>T MANE Select	NP_000539.2:p.Pro1315Ser
NM_001370404.1:c.3811C>T	NP_001357333.1:p.Pro1271Ser
NM_001370405.1:c.3814C>T	NP_001357334.1:p.Pro1272Ser
NM_001077183.3:c.3742C>T	NP_001070651.1:p.Pro1248Ser
NM_001114382.3:c.3874C>T	NP_001107854.1:p.Pro1292Ser
NM_001318827.2:c.3634C>T	NP_001305756.1:p.Pro1212Ser
NM_001318829.2:c.3598C>T	NP_001305758.1:p.Pro1200Ser
NM_001318831.2:c.3211C>T	NP_001305760.1:p.Pro1071Ser
NM_001318832.2:c.3775C>T	NP_001305761.1:p.Pro1259Ser
NM_001363528.2:c.3745C>T	NP_001350457.1:p.Pro1249Ser
NM_021055.3:c.3814C>T	NP_066399.2:p.Pro1272Ser