Canonical Allele Identifier: CA394291933

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1715087
• ClinVar RCV Id: RCV002299379 ; RCV002346581
• gnomAD v4: 16-2081630-C-T
• MyVariant Identifiers: chr16:g.2131631C>T (hg19) ; chr16:g.2081630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081630C>T , CM000678.2:g.2081630C>T	GRCh38
NC_000016.9:g.2131631C>T , CM000678.1:g.2131631C>T	GRCh37
NC_000016.8:g.2071632C>T	NCBI36
NG_005895.1:g.37325C>T , LRG_487:g.37325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2064C>T	ENSP00000455997.2:n.*2064C>T
ENST00000642206.2:c.3562C>T	ENSP00000495146.2:p.Leu1188Phe
ENST00000642365.2:c.3643C>T	ENSP00000495459.2:p.Leu1215Phe
ENST00000644417.2:c.*4095C>T	ENSP00000493912.2:n.*4095C>T
ENST00000646464.2:c.*4568C>T	ENSP00000496610.2:n.*4568C>T
ENST00000219476.9:c.3646C>T MANE Select	ENSP00000219476.3:p.Leu1216Phe
ENST00000350773.9:c.3646C>T	ENSP00000344383.4:p.Leu1216Phe
ENST00000401874.7:c.3514C>T	ENSP00000384468.2:p.Leu1172Phe
ENST00000568454.6:c.3547C>T	ENSP00000454487.1:p.Leu1183Phe
ENST00000642365.1:c.2300C>T
ENST00000642561.1:c.3517C>T	ENSP00000495099.1:p.Leu1173Phe
ENST00000642797.1:c.3517C>T	ENSP00000493846.1:p.Leu1173Phe
ENST00000642936.1:c.3514C>T	ENSP00000494514.1:p.Leu1172Phe
ENST00000643088.1:c.3514C>T	ENSP00000494747.1:p.Leu1172Phe
ENST00000643426.1:n.1294C>T
ENST00000643533.1:n.156C>T
ENST00000643946.1:c.3646C>T	ENSP00000495927.1:p.Leu1216Phe
ENST00000644043.1:c.3517C>T	ENSP00000496262.1:p.Leu1173Phe
ENST00000644329.1:c.3514C>T	ENSP00000496611.1:p.Leu1172Phe
ENST00000644335.1:c.3517C>T	ENSP00000496317.1:p.Leu1173Phe
ENST00000644399.1:c.3636C>T
ENST00000644722.1:n.792C>T
ENST00000645024.1:n.1799C>T
ENST00000646388.1:c.3646C>T	ENSP00000495921.1:p.Leu1216Phe
ENST00000646634.1:n.2530C>T
ENST00000646674.1:n.261C>T
ENST00000647042.1:n.938C>T
ENST00000647180.1:n.126C>T
ENST00000219476.7:c.3646C>T	ENSP00000219476.3:p.Leu1216Phe
ENST00000350773.8:c.3646C>T	ENSP00000344383.4:p.Leu1216Phe
ENST00000382538.10:c.3370C>T	ENSP00000371978.6:p.Leu1124Phe
ENST00000401874.6:c.3514C>T	ENSP00000384468.2:p.Leu1172Phe
ENST00000439117.6:c.*2813C>T	ENSP00000406980.2:n.*2813C>T
ENST00000439673.6:c.3406C>T	ENSP00000399232.2:p.Leu1136Phe
ENST00000497886.5:n.1473C>T
ENST00000568454.5:c.3547C>T	ENSP00000454487.1:p.Leu1183Phe
NM_000548.3:c.3646C>T , LRG_487t1:c.3646C>T	NP_000539.2:p.Leu1216Phe
NM_001077183.1:c.3514C>T	NP_001070651.1:p.Leu1172Phe
NM_001114382.1:c.3646C>T	NP_001107854.1:p.Leu1216Phe
XM_005255529.3:c.3517C>T	XP_005255586.2:p.Leu1173Phe
XM_005255531.3:c.3517C>T	XP_005255588.2:p.Leu1173Phe
XM_011522636.1:c.3646C>T	XP_011520938.1:p.Leu1216Phe
XM_011522637.1:c.3643C>T	XP_011520939.1:p.Leu1215Phe
XM_011522638.1:c.3535C>T	XP_011520940.1:p.Leu1179Phe
XM_011522639.1:c.3517C>T	XP_011520941.1:p.Leu1173Phe
XM_011522640.1:c.3514C>T	XP_011520942.1:p.Leu1172Phe
XM_011522641.1:c.3406C>T	XP_011520943.1:p.Leu1136Phe
NM_000548.4:c.3646C>T	NP_000539.2:p.Leu1216Phe
NM_001077183.2:c.3514C>T	NP_001070651.1:p.Leu1172Phe
NM_001114382.2:c.3646C>T	NP_001107854.1:p.Leu1216Phe
NM_001318827.1:c.3406C>T	NP_001305756.1:p.Leu1136Phe
NM_001318829.1:c.3370C>T	NP_001305758.1:p.Leu1124Phe
NM_001318831.1:c.2914C>T	NP_001305760.1:p.Leu972Phe
NM_001318832.1:c.3547C>T	NP_001305761.1:p.Leu1183Phe
NM_001363528.1:c.3517C>T	NP_001350457.1:p.Leu1173Phe
NM_021055.2:c.3517C>T	NP_066399.2:p.Leu1173Phe
XM_005255531.4:c.3517C>T	XP_005255588.2:p.Leu1173Phe
XM_011522636.2:c.3646C>T	XP_011520938.1:p.Leu1216Phe
XM_011522637.2:c.3643C>T	XP_011520939.1:p.Leu1215Phe
XM_011522638.2:c.3808C>T	XP_011520940.2:p.Leu1270Phe
XM_011522639.2:c.3517C>T	XP_011520941.1:p.Leu1173Phe
XM_011522640.2:c.3514C>T	XP_011520942.1:p.Leu1172Phe
XM_017023615.1:c.3643C>T	XP_016879104.1:p.Leu1215Phe
XM_017023616.1:c.3514C>T	XP_016879105.1:p.Leu1172Phe
XM_017023617.1:c.3679C>T	XP_016879106.1:p.Leu1227Phe
XM_017023618.1:c.2302C>T	XP_016879107.1:p.Leu768Phe
XM_024450413.1:c.3514C>T	XP_024306181.1:p.Leu1172Phe
NM_000548.5:c.3646C>T MANE Select	NP_000539.2:p.Leu1216Phe
NM_001370404.1:c.3514C>T	NP_001357333.1:p.Leu1172Phe
NM_001370405.1:c.3517C>T	NP_001357334.1:p.Leu1173Phe
NM_001077183.3:c.3514C>T	NP_001070651.1:p.Leu1172Phe
NM_001114382.3:c.3646C>T	NP_001107854.1:p.Leu1216Phe
NM_001318827.2:c.3406C>T	NP_001305756.1:p.Leu1136Phe
NM_001318829.2:c.3370C>T	NP_001305758.1:p.Leu1124Phe
NM_001318831.2:c.2914C>T	NP_001305760.1:p.Leu972Phe
NM_001318832.2:c.3547C>T	NP_001305761.1:p.Leu1183Phe
NM_001363528.2:c.3517C>T	NP_001350457.1:p.Leu1173Phe
NM_021055.3:c.3517C>T	NP_066399.2:p.Leu1173Phe