Canonical Allele Identifier: CA493042906

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468040
• ClinVar RCV Id: RCV000556146 ; RCV002358536
• dbSNP Id: rs1555512577
• MyVariant Identifiers: chr16:g.2131798A>G (hg19) ; chr16:g.2081797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081797A>G , CM000678.2:g.2081797A>G	GRCh38
NC_000016.9:g.2131798A>G , CM000678.1:g.2131798A>G	GRCh37
NC_000016.8:g.2071799A>G	NCBI36
NG_005895.1:g.37492A>G , LRG_487:g.37492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2231A>G	ENSP00000455997.2:n.*2231A>G
ENST00000642206.2:c.3729A>G	ENSP00000495146.2:p.Thr1243=
ENST00000642365.2:c.3810A>G	ENSP00000495459.2:p.Thr1270=
ENST00000644417.2:c.*4262A>G	ENSP00000493912.2:n.*4262A>G
ENST00000646464.2:c.*4735A>G	ENSP00000496610.2:n.*4735A>G
ENST00000219476.9:c.3813A>G MANE Select	ENSP00000219476.3:p.Thr1271=
ENST00000350773.9:c.3813A>G	ENSP00000344383.4:p.Thr1271=
ENST00000401874.7:c.3681A>G	ENSP00000384468.2:p.Thr1227=
ENST00000568454.6:c.3714A>G	ENSP00000454487.1:p.Thr1238=
ENST00000642365.1:c.2467A>G
ENST00000642561.1:c.3684A>G	ENSP00000495099.1:p.Thr1228=
ENST00000642797.1:c.3684A>G	ENSP00000493846.1:p.Thr1228=
ENST00000642936.1:c.3681A>G	ENSP00000494514.1:p.Thr1227=
ENST00000643088.1:c.3681A>G	ENSP00000494747.1:p.Thr1227=
ENST00000643426.1:n.1461A>G
ENST00000643533.1:n.323A>G
ENST00000643946.1:c.3813A>G	ENSP00000495927.1:p.Thr1271=
ENST00000644043.1:c.3684A>G	ENSP00000496262.1:p.Thr1228=
ENST00000644329.1:c.3681A>G	ENSP00000496611.1:p.Thr1227=
ENST00000644335.1:c.3684A>G	ENSP00000496317.1:p.Thr1228=
ENST00000644399.1:c.3803A>G
ENST00000644722.1:n.959A>G
ENST00000645024.1:n.1966A>G
ENST00000646388.1:c.3813A>G	ENSP00000495921.1:p.Thr1271=
ENST00000646634.1:n.2697A>G
ENST00000646674.1:n.428A>G
ENST00000647042.1:n.1105A>G
ENST00000647180.1:n.293A>G
ENST00000219476.7:c.3813A>G	ENSP00000219476.3:p.Thr1271=
ENST00000350773.8:c.3813A>G	ENSP00000344383.4:p.Thr1271=
ENST00000382538.10:c.3537A>G	ENSP00000371978.6:p.Thr1179=
ENST00000401874.6:c.3681A>G	ENSP00000384468.2:p.Thr1227=
ENST00000439117.6:c.*2980A>G	ENSP00000406980.2:n.*2980A>G
ENST00000439673.6:c.3573A>G	ENSP00000399232.2:p.Thr1191=
ENST00000497886.5:n.1640A>G
ENST00000568454.5:c.3714A>G	ENSP00000454487.1:p.Thr1238=
NM_000548.3:c.3813A>G , LRG_487t1:c.3813A>G	NP_000539.2:p.Thr1271=
NM_001077183.1:c.3681A>G	NP_001070651.1:p.Thr1227=
NM_001114382.1:c.3813A>G	NP_001107854.1:p.Thr1271=
XM_005255529.3:c.3684A>G	XP_005255586.2:p.Thr1228=
XM_005255531.3:c.3684A>G	XP_005255588.2:p.Thr1228=
XM_011522636.1:c.3813A>G	XP_011520938.1:p.Thr1271=
XM_011522637.1:c.3810A>G	XP_011520939.1:p.Thr1270=
XM_011522638.1:c.3702A>G	XP_011520940.1:p.Thr1234=
XM_011522639.1:c.3684A>G	XP_011520941.1:p.Thr1228=
XM_011522640.1:c.3681A>G	XP_011520942.1:p.Thr1227=
XM_011522641.1:c.3573A>G	XP_011520943.1:p.Thr1191=
NM_000548.4:c.3813A>G	NP_000539.2:p.Thr1271=
NM_001077183.2:c.3681A>G	NP_001070651.1:p.Thr1227=
NM_001114382.2:c.3813A>G	NP_001107854.1:p.Thr1271=
NM_001318827.1:c.3573A>G	NP_001305756.1:p.Thr1191=
NM_001318829.1:c.3537A>G	NP_001305758.1:p.Thr1179=
NM_001318831.1:c.3081A>G	NP_001305760.1:p.Thr1027=
NM_001318832.1:c.3714A>G	NP_001305761.1:p.Thr1238=
NM_001363528.1:c.3684A>G	NP_001350457.1:p.Thr1228=
NM_021055.2:c.3684A>G	NP_066399.2:p.Thr1228=
XM_005255531.4:c.3684A>G	XP_005255588.2:p.Thr1228=
XM_011522636.2:c.3813A>G	XP_011520938.1:p.Thr1271=
XM_011522637.2:c.3810A>G	XP_011520939.1:p.Thr1270=
XM_011522638.2:c.3975A>G	XP_011520940.2:p.Thr1325=
XM_011522639.2:c.3684A>G	XP_011520941.1:p.Thr1228=
XM_011522640.2:c.3681A>G	XP_011520942.1:p.Thr1227=
XM_017023615.1:c.3810A>G	XP_016879104.1:p.Thr1270=
XM_017023616.1:c.3681A>G	XP_016879105.1:p.Thr1227=
XM_017023617.1:c.3846A>G	XP_016879106.1:p.Thr1282=
XM_017023618.1:c.2469A>G	XP_016879107.1:p.Thr823=
XM_024450413.1:c.3681A>G	XP_024306181.1:p.Thr1227=
NM_000548.5:c.3813A>G MANE Select	NP_000539.2:p.Thr1271=
NM_001370404.1:c.3681A>G	NP_001357333.1:p.Thr1227=
NM_001370405.1:c.3684A>G	NP_001357334.1:p.Thr1228=
NM_001077183.3:c.3681A>G	NP_001070651.1:p.Thr1227=
NM_001114382.3:c.3813A>G	NP_001107854.1:p.Thr1271=
NM_001318827.2:c.3573A>G	NP_001305756.1:p.Thr1191=
NM_001318829.2:c.3537A>G	NP_001305758.1:p.Thr1179=
NM_001318831.2:c.3081A>G	NP_001305760.1:p.Thr1027=
NM_001318832.2:c.3714A>G	NP_001305761.1:p.Thr1238=
NM_001363528.2:c.3684A>G	NP_001350457.1:p.Thr1228=
NM_021055.3:c.3684A>G	NP_066399.2:p.Thr1228=