Canonical Allele Identifier: CA028150

Gene: TSC2

Linked Data

• ClinVar Variation Id: 207711
• ClinVar RCV Id: RCV001721235
• dbSNP Id: rs45517148
• ExAC: 16:2110791 G / A
• gnomAD v2: 16-2110791-G-A
• gnomAD v3: 16-2060790-G-A
• gnomAD v4: 16-2060790-G-A
• MyVariant Identifiers: chr16:g.2110791G>A (hg19) ; chr16:g.2060790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2060790G>A , CM000678.2:g.2060790G>A	GRCh38
NC_000016.9:g.2110791G>A , CM000678.1:g.2110791G>A	GRCh37
NC_000016.8:g.2050792G>A	NCBI36
NG_005895.1:g.16485G>A , LRG_487:g.16485G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.1096G>A	ENSP00000455997.2:p.Glu366Lys
ENST00000642206.2:c.1141G>A	ENSP00000495146.2:p.Glu381Lys
ENST00000642365.2:c.1096G>A	ENSP00000495459.2:p.Glu366Lys
ENST00000644417.2:c.*533G>A	ENSP00000493912.2:n.*533G>A
ENST00000646464.2:c.*701G>A	ENSP00000496610.2:n.*701G>A
ENST00000219476.9:c.1096G>A MANE Select	ENSP00000219476.3:p.Glu366Lys
ENST00000350773.9:c.1096G>A	ENSP00000344383.4:p.Glu366Lys
ENST00000401874.7:c.1096G>A	ENSP00000384468.2:p.Glu366Lys
ENST00000467949.2:n.428-1707G>A
ENST00000568454.6:c.1129G>A	ENSP00000454487.1:p.Glu377Lys
ENST00000642561.1:c.1096G>A	ENSP00000495099.1:p.Glu366Lys
ENST00000642797.1:c.1096G>A	ENSP00000493846.1:p.Glu366Lys
ENST00000642812.1:n.1141G>A
ENST00000642936.1:c.1096G>A	ENSP00000494514.1:p.Glu366Lys
ENST00000643088.1:c.1096G>A	ENSP00000494747.1:p.Glu366Lys
ENST00000643149.1:n.2049G>A
ENST00000643298.1:c.*598G>A	ENSP00000494393.1:n.*598G>A
ENST00000643745.1:c.1096G>A	ENSP00000495948.1:p.Glu366Lys
ENST00000643946.1:c.1096G>A	ENSP00000495927.1:p.Glu366Lys
ENST00000644043.1:c.1096G>A	ENSP00000496262.1:p.Glu366Lys
ENST00000644135.1:c.1096G>A	ENSP00000495644.1:p.Glu366Lys
ENST00000644222.1:n.1183G>A
ENST00000644329.1:c.1096G>A	ENSP00000496611.1:p.Glu366Lys
ENST00000644335.1:c.1096G>A	ENSP00000496317.1:p.Glu366Lys
ENST00000644399.1:c.1089G>A
ENST00000644665.1:n.1213G>A
ENST00000645591.1:n.2067G>A
ENST00000646388.1:c.1096G>A	ENSP00000495921.1:p.Glu366Lys
ENST00000646823.1:n.1510G>A
ENST00000647234.1:n.1797G>A
ENST00000647242.1:n.1764G>A
ENST00000219476.7:c.1096G>A	ENSP00000219476.3:p.Glu366Lys
ENST00000350773.8:c.1096G>A	ENSP00000344383.4:p.Glu366Lys
ENST00000382538.10:c.949G>A	ENSP00000371978.6:p.Glu317Lys
ENST00000401874.6:c.1096G>A	ENSP00000384468.2:p.Glu366Lys
ENST00000439117.6:c.*395G>A	ENSP00000406980.2:n.*395G>A
ENST00000439673.6:c.985G>A	ENSP00000399232.2:p.Glu329Lys
ENST00000467949.1:c.412-1707G>A	ENSP00000454997.1:n.412-1707G>A
ENST00000568454.5:c.1129G>A	ENSP00000454487.1:p.Glu377Lys
NM_000548.3:c.1096G>A , LRG_487t1:c.1096G>A	NP_000539.2:p.Glu366Lys
NM_001077183.1:c.1096G>A	NP_001070651.1:p.Glu366Lys
NM_001114382.1:c.1096G>A	NP_001107854.1:p.Glu366Lys
XM_005255529.3:c.1096G>A	XP_005255586.2:p.Glu366Lys
XM_005255531.3:c.1096G>A	XP_005255588.2:p.Glu366Lys
XM_011522636.1:c.1096G>A	XP_011520938.1:p.Glu366Lys
XM_011522637.1:c.1096G>A	XP_011520939.1:p.Glu366Lys
XM_011522638.1:c.985G>A	XP_011520940.1:p.Glu329Lys
XM_011522639.1:c.1096G>A	XP_011520941.1:p.Glu366Lys
XM_011522640.1:c.1096G>A	XP_011520942.1:p.Glu366Lys
XM_011522641.1:c.985G>A	XP_011520943.1:p.Glu329Lys
NM_000548.4:c.1096G>A	NP_000539.2:p.Glu366Lys
NM_001077183.2:c.1096G>A	NP_001070651.1:p.Glu366Lys
NM_001114382.2:c.1096G>A	NP_001107854.1:p.Glu366Lys
NM_001318827.1:c.985G>A	NP_001305756.1:p.Glu329Lys
NM_001318829.1:c.949G>A	NP_001305758.1:p.Glu317Lys
NM_001318831.1:c.496G>A	NP_001305760.1:p.Glu166Lys
NM_001318832.1:c.1129G>A	NP_001305761.1:p.Glu377Lys
NM_001363528.1:c.1096G>A	NP_001350457.1:p.Glu366Lys
NM_021055.2:c.1096G>A	NP_066399.2:p.Glu366Lys
XM_005255531.4:c.1096G>A	XP_005255588.2:p.Glu366Lys
XM_011522636.2:c.1096G>A	XP_011520938.1:p.Glu366Lys
XM_011522637.2:c.1096G>A	XP_011520939.1:p.Glu366Lys
XM_011522638.2:c.1258G>A	XP_011520940.2:p.Glu420Lys
XM_011522639.2:c.1096G>A	XP_011520941.1:p.Glu366Lys
XM_011522640.2:c.1096G>A	XP_011520942.1:p.Glu366Lys
XM_017023615.1:c.1096G>A	XP_016879104.1:p.Glu366Lys
XM_017023616.1:c.1096G>A	XP_016879105.1:p.Glu366Lys
XM_017023617.1:c.1258G>A	XP_016879106.1:p.Glu420Lys
XM_017023618.1:c.-336G>A	XP_016879107.1:n.-336G>A
XM_024450413.1:c.1096G>A	XP_024306181.1:p.Glu366Lys
NM_000548.5:c.1096G>A MANE Select	NP_000539.2:p.Glu366Lys
NM_001370404.1:c.1096G>A	NP_001357333.1:p.Glu366Lys
NM_001370405.1:c.1096G>A	NP_001357334.1:p.Glu366Lys
NM_001077183.3:c.1096G>A	NP_001070651.1:p.Glu366Lys
NM_001114382.3:c.1096G>A	NP_001107854.1:p.Glu366Lys
NM_001318827.2:c.985G>A	NP_001305756.1:p.Glu329Lys
NM_001318829.2:c.949G>A	NP_001305758.1:p.Glu317Lys
NM_001318831.2:c.496G>A	NP_001305760.1:p.Glu166Lys
NM_001318832.2:c.1129G>A	NP_001305761.1:p.Glu377Lys
NM_001363528.2:c.1096G>A	NP_001350457.1:p.Glu366Lys
NM_021055.3:c.1096G>A	NP_066399.2:p.Glu366Lys