Canonical Allele Identifier: CA019111

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65349
• ClinVar RCV Id: RCV000055573 ; RCV001020231 ; RCV000227736
• dbSNP Id: rs397515021
• gnomAD v4: 16-2054299-G-A
• MyVariant Identifiers: chr16:g.2104300G>A (hg19) ; chr16:g.2054299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2054299G>A , CM000678.2:g.2054299G>A	GRCh38
NC_000016.9:g.2104300G>A , CM000678.1:g.2104300G>A	GRCh37
NC_000016.8:g.2044301G>A	NCBI36
NG_005895.1:g.9994G>A , LRG_487:g.9994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.340G>A	ENSP00000455997.2:p.Glu114Lys
ENST00000642206.2:c.385G>A	ENSP00000495146.2:p.Glu129Lys
ENST00000642365.2:c.340G>A	ENSP00000495459.2:p.Glu114Lys
ENST00000644417.2:c.340G>A	ENSP00000493912.2:p.Glu114Lys
ENST00000646464.2:c.226-1681G>A	ENSP00000496610.2:n.226-1681G>A
ENST00000219476.9:c.340G>A MANE Select	ENSP00000219476.3:p.Glu114Lys
ENST00000350773.9:c.340G>A	ENSP00000344383.4:p.Glu114Lys
ENST00000401874.7:c.340G>A	ENSP00000384468.2:p.Glu114Lys
ENST00000432909.3:c.114G>A
ENST00000461648.3:n.1293G>A
ENST00000568454.6:c.373G>A	ENSP00000454487.1:p.Glu125Lys
ENST00000568692.2:n.1063G>A
ENST00000642561.1:c.340G>A	ENSP00000495099.1:p.Glu114Lys
ENST00000642797.1:c.340G>A	ENSP00000493846.1:p.Glu114Lys
ENST00000642812.1:n.397G>A
ENST00000642936.1:c.340G>A	ENSP00000494514.1:p.Glu114Lys
ENST00000643088.1:c.340G>A	ENSP00000494747.1:p.Glu114Lys
ENST00000643120.1:n.381G>A
ENST00000643149.1:n.1293G>A
ENST00000643298.1:c.340G>A	ENSP00000494393.1:p.Glu114Lys
ENST00000643745.1:c.340G>A	ENSP00000495948.1:p.Glu114Lys
ENST00000643946.1:c.340G>A	ENSP00000495927.1:p.Glu114Lys
ENST00000644043.1:c.340G>A	ENSP00000496262.1:p.Glu114Lys
ENST00000644135.1:c.340G>A	ENSP00000495644.1:p.Glu114Lys
ENST00000644222.1:n.427G>A
ENST00000644329.1:c.340G>A	ENSP00000496611.1:p.Glu114Lys
ENST00000644335.1:c.340G>A	ENSP00000496317.1:p.Glu114Lys
ENST00000644399.1:c.333G>A
ENST00000644417.1:c.55G>A	ENSP00000493912.1:p.Glu19Lys
ENST00000644665.1:n.457G>A
ENST00000645591.1:n.1311G>A
ENST00000646388.1:c.340G>A	ENSP00000495921.1:p.Glu114Lys
ENST00000646823.1:n.728G>A
ENST00000647234.1:n.1058G>A
ENST00000647242.1:n.1008G>A
ENST00000219476.7:c.340G>A	ENSP00000219476.3:p.Glu114Lys
ENST00000350773.8:c.340G>A	ENSP00000344383.4:p.Glu114Lys
ENST00000382538.10:c.193G>A	ENSP00000371978.6:p.Glu65Lys
ENST00000401874.6:c.340G>A	ENSP00000384468.2:p.Glu114Lys
ENST00000432909.2:c.114G>A
ENST00000439117.6:c.226-1897G>A	ENSP00000406980.2:n.226-1897G>A
ENST00000439673.6:c.229G>A	ENSP00000399232.2:p.Glu77Lys
ENST00000568454.5:c.373G>A	ENSP00000454487.1:p.Glu125Lys
ENST00000568692.1:n.4G>A
NM_000548.3:c.340G>A , LRG_487t1:c.340G>A	NP_000539.2:p.Glu114Lys
NM_001077183.1:c.340G>A	NP_001070651.1:p.Glu114Lys
NM_001114382.1:c.340G>A	NP_001107854.1:p.Glu114Lys
XM_005255529.3:c.340G>A	XP_005255586.2:p.Glu114Lys
XM_005255531.3:c.340G>A	XP_005255588.2:p.Glu114Lys
XM_011522636.1:c.340G>A	XP_011520938.1:p.Glu114Lys
XM_011522637.1:c.340G>A	XP_011520939.1:p.Glu114Lys
XM_011522638.1:c.229G>A	XP_011520940.1:p.Glu77Lys
XM_011522639.1:c.340G>A	XP_011520941.1:p.Glu114Lys
XM_011522640.1:c.340G>A	XP_011520942.1:p.Glu114Lys
XM_011522641.1:c.229G>A	XP_011520943.1:p.Glu77Lys
NM_000548.4:c.340G>A	NP_000539.2:p.Glu114Lys
NM_001077183.2:c.340G>A	NP_001070651.1:p.Glu114Lys
NM_001114382.2:c.340G>A	NP_001107854.1:p.Glu114Lys
NM_001318827.1:c.229G>A	NP_001305756.1:p.Glu77Lys
NM_001318829.1:c.193G>A	NP_001305758.1:p.Glu65Lys
NM_001318831.1:c.-1-1897G>A	NP_001305760.1:n.-1-1897G>A
NM_001318832.1:c.373G>A	NP_001305761.1:p.Glu125Lys
NM_001363528.1:c.340G>A	NP_001350457.1:p.Glu114Lys
NM_021055.2:c.340G>A	NP_066399.2:p.Glu114Lys
XM_005255531.4:c.340G>A	XP_005255588.2:p.Glu114Lys
XM_011522636.2:c.340G>A	XP_011520938.1:p.Glu114Lys
XM_011522637.2:c.340G>A	XP_011520939.1:p.Glu114Lys
XM_011522638.2:c.502G>A	XP_011520940.2:p.Glu168Lys
XM_011522639.2:c.340G>A	XP_011520941.1:p.Glu114Lys
XM_011522640.2:c.340G>A	XP_011520942.1:p.Glu114Lys
XM_017023615.1:c.340G>A	XP_016879104.1:p.Glu114Lys
XM_017023616.1:c.340G>A	XP_016879105.1:p.Glu114Lys
XM_017023617.1:c.502G>A	XP_016879106.1:p.Glu168Lys
XM_017023618.1:c.-1092G>A	XP_016879107.1:n.-1092G>A
XM_024450413.1:c.340G>A	XP_024306181.1:p.Glu114Lys
NM_000548.5:c.340G>A MANE Select	NP_000539.2:p.Glu114Lys
NM_001370404.1:c.340G>A	NP_001357333.1:p.Glu114Lys
NM_001370405.1:c.340G>A	NP_001357334.1:p.Glu114Lys
NM_001077183.3:c.340G>A	NP_001070651.1:p.Glu114Lys
NM_001114382.3:c.340G>A	NP_001107854.1:p.Glu114Lys
NM_001318827.2:c.229G>A	NP_001305756.1:p.Glu77Lys
NM_001318829.2:c.193G>A	NP_001305758.1:p.Glu65Lys
NM_001318831.2:c.-1-1897G>A	NP_001305760.1:n.-1-1897G>A
NM_001318832.2:c.373G>A	NP_001305761.1:p.Glu125Lys
NM_001363528.2:c.340G>A	NP_001350457.1:p.Glu114Lys
NM_021055.3:c.340G>A	NP_066399.2:p.Glu114Lys