Canonical Allele Identifier: CA493043290

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1089015
• ClinVar RCV Id: RCV001407672
• dbSNP Id: rs2090172721
• MyVariant Identifiers: chr16:g.2131781C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081780C>T , CM000678.2:g.2081780C>T	GRCh38
NC_000016.9:g.2131781C>T , CM000678.1:g.2131781C>T	GRCh37
NC_000016.8:g.2071782C>T	NCBI36
NG_005895.1:g.37475C>T , LRG_487:g.37475C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2214C>T	ENSP00000455997.2:n.*2214C>T
ENST00000642206.2:c.3712C>T	ENSP00000495146.2:p.Leu1238=
ENST00000642365.2:c.3793C>T	ENSP00000495459.2:p.Leu1265=
ENST00000644417.2:c.*4245C>T	ENSP00000493912.2:n.*4245C>T
ENST00000646464.2:c.*4718C>T	ENSP00000496610.2:n.*4718C>T
ENST00000219476.9:c.3796C>T MANE Select	ENSP00000219476.3:p.Leu1266=
ENST00000350773.9:c.3796C>T	ENSP00000344383.4:p.Leu1266=
ENST00000401874.7:c.3664C>T	ENSP00000384468.2:p.Leu1222=
ENST00000568454.6:c.3697C>T	ENSP00000454487.1:p.Leu1233=
ENST00000642365.1:c.2450C>T
ENST00000642561.1:c.3667C>T	ENSP00000495099.1:p.Leu1223=
ENST00000642797.1:c.3667C>T	ENSP00000493846.1:p.Leu1223=
ENST00000642936.1:c.3664C>T	ENSP00000494514.1:p.Leu1222=
ENST00000643088.1:c.3664C>T	ENSP00000494747.1:p.Leu1222=
ENST00000643426.1:n.1444C>T
ENST00000643533.1:n.306C>T
ENST00000643946.1:c.3796C>T	ENSP00000495927.1:p.Leu1266=
ENST00000644043.1:c.3667C>T	ENSP00000496262.1:p.Leu1223=
ENST00000644329.1:c.3664C>T	ENSP00000496611.1:p.Leu1222=
ENST00000644335.1:c.3667C>T	ENSP00000496317.1:p.Leu1223=
ENST00000644399.1:c.3786C>T
ENST00000644722.1:n.942C>T
ENST00000645024.1:n.1949C>T
ENST00000646388.1:c.3796C>T	ENSP00000495921.1:p.Leu1266=
ENST00000646634.1:n.2680C>T
ENST00000646674.1:n.411C>T
ENST00000647042.1:n.1088C>T
ENST00000647180.1:n.276C>T
ENST00000219476.7:c.3796C>T	ENSP00000219476.3:p.Leu1266=
ENST00000350773.8:c.3796C>T	ENSP00000344383.4:p.Leu1266=
ENST00000382538.10:c.3520C>T	ENSP00000371978.6:p.Leu1174=
ENST00000401874.6:c.3664C>T	ENSP00000384468.2:p.Leu1222=
ENST00000439117.6:c.*2963C>T	ENSP00000406980.2:n.*2963C>T
ENST00000439673.6:c.3556C>T	ENSP00000399232.2:p.Leu1186=
ENST00000497886.5:n.1623C>T
ENST00000568454.5:c.3697C>T	ENSP00000454487.1:p.Leu1233=
NM_000548.3:c.3796C>T , LRG_487t1:c.3796C>T	NP_000539.2:p.Leu1266=
NM_001077183.1:c.3664C>T	NP_001070651.1:p.Leu1222=
NM_001114382.1:c.3796C>T	NP_001107854.1:p.Leu1266=
XM_005255529.3:c.3667C>T	XP_005255586.2:p.Leu1223=
XM_005255531.3:c.3667C>T	XP_005255588.2:p.Leu1223=
XM_011522636.1:c.3796C>T	XP_011520938.1:p.Leu1266=
XM_011522637.1:c.3793C>T	XP_011520939.1:p.Leu1265=
XM_011522638.1:c.3685C>T	XP_011520940.1:p.Leu1229=
XM_011522639.1:c.3667C>T	XP_011520941.1:p.Leu1223=
XM_011522640.1:c.3664C>T	XP_011520942.1:p.Leu1222=
XM_011522641.1:c.3556C>T	XP_011520943.1:p.Leu1186=
NM_000548.4:c.3796C>T	NP_000539.2:p.Leu1266=
NM_001077183.2:c.3664C>T	NP_001070651.1:p.Leu1222=
NM_001114382.2:c.3796C>T	NP_001107854.1:p.Leu1266=
NM_001318827.1:c.3556C>T	NP_001305756.1:p.Leu1186=
NM_001318829.1:c.3520C>T	NP_001305758.1:p.Leu1174=
NM_001318831.1:c.3064C>T	NP_001305760.1:p.Leu1022=
NM_001318832.1:c.3697C>T	NP_001305761.1:p.Leu1233=
NM_001363528.1:c.3667C>T	NP_001350457.1:p.Leu1223=
NM_021055.2:c.3667C>T	NP_066399.2:p.Leu1223=
XM_005255531.4:c.3667C>T	XP_005255588.2:p.Leu1223=
XM_011522636.2:c.3796C>T	XP_011520938.1:p.Leu1266=
XM_011522637.2:c.3793C>T	XP_011520939.1:p.Leu1265=
XM_011522638.2:c.3958C>T	XP_011520940.2:p.Leu1320=
XM_011522639.2:c.3667C>T	XP_011520941.1:p.Leu1223=
XM_011522640.2:c.3664C>T	XP_011520942.1:p.Leu1222=
XM_017023615.1:c.3793C>T	XP_016879104.1:p.Leu1265=
XM_017023616.1:c.3664C>T	XP_016879105.1:p.Leu1222=
XM_017023617.1:c.3829C>T	XP_016879106.1:p.Leu1277=
XM_017023618.1:c.2452C>T	XP_016879107.1:p.Leu818=
XM_024450413.1:c.3664C>T	XP_024306181.1:p.Leu1222=
NM_000548.5:c.3796C>T MANE Select	NP_000539.2:p.Leu1266=
NM_001370404.1:c.3664C>T	NP_001357333.1:p.Leu1222=
NM_001370405.1:c.3667C>T	NP_001357334.1:p.Leu1223=
NM_001077183.3:c.3664C>T	NP_001070651.1:p.Leu1222=
NM_001114382.3:c.3796C>T	NP_001107854.1:p.Leu1266=
NM_001318827.2:c.3556C>T	NP_001305756.1:p.Leu1186=
NM_001318829.2:c.3520C>T	NP_001305758.1:p.Leu1174=
NM_001318831.2:c.3064C>T	NP_001305760.1:p.Leu1022=
NM_001318832.2:c.3697C>T	NP_001305761.1:p.Leu1233=
NM_001363528.2:c.3667C>T	NP_001350457.1:p.Leu1223=
NM_021055.3:c.3667C>T	NP_066399.2:p.Leu1223=