Canonical Allele Identifier: CA493043011

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1656667
• ClinVar RCV Id: RCV002161959
• dbSNP Id: rs876658217
• MyVariant Identifiers: chr16:g.2134240C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084239C>G , CM000678.2:g.2084239C>G	GRCh38
NC_000016.9:g.2134240C>G , CM000678.1:g.2134240C>G	GRCh37
NC_000016.8:g.2074241C>G	NCBI36
NG_005895.1:g.39934C>G , LRG_487:g.39934C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2366C>G	ENSP00000455997.2:n.*2366C>G
ENST00000642206.2:c.3864C>G	ENSP00000495146.2:p.Val1288=
ENST00000642365.2:c.4014C>G	ENSP00000495459.2:p.Val1338=
ENST00000644417.2:c.*4397C>G	ENSP00000493912.2:n.*4397C>G
ENST00000646464.2:c.*6766C>G	ENSP00000496610.2:n.*6766C>G
ENST00000219476.9:c.4017C>G MANE Select	ENSP00000219476.3:p.Val1339=
ENST00000350773.9:c.3948C>G	ENSP00000344383.4:p.Val1316=
ENST00000401874.7:c.3816C>G	ENSP00000384468.2:p.Val1272=
ENST00000568454.6:c.3849C>G	ENSP00000454487.1:p.Val1283=
ENST00000569110.2:c.253C>G
ENST00000569930.2:n.1899C>G
ENST00000642365.1:c.2671C>G
ENST00000642561.1:c.3888C>G	ENSP00000495099.1:p.Val1296=
ENST00000642728.1:n.199C>G
ENST00000642797.1:c.3819C>G	ENSP00000493846.1:p.Val1273=
ENST00000642936.1:c.3885C>G	ENSP00000494514.1:p.Val1295=
ENST00000643088.1:c.3816C>G	ENSP00000494747.1:p.Val1272=
ENST00000643177.1:n.31C>G
ENST00000643426.1:n.1665C>G
ENST00000643533.1:n.458C>G
ENST00000643946.1:c.3948C>G	ENSP00000495927.1:p.Val1316=
ENST00000644043.1:c.3888C>G	ENSP00000496262.1:p.Val1296=
ENST00000644329.1:c.3816C>G	ENSP00000496611.1:p.Val1272=
ENST00000644335.1:c.3819C>G	ENSP00000496317.1:p.Val1273=
ENST00000644399.1:c.3938C>G
ENST00000645024.1:n.2101C>G
ENST00000645186.1:c.260C>G
ENST00000646388.1:c.4017C>G	ENSP00000495921.1:p.Val1339=
ENST00000646634.1:n.2832C>G
ENST00000646674.1:n.1269C>G
ENST00000647042.1:n.1240C>G
ENST00000647180.1:n.1130C>G
ENST00000219476.7:c.4017C>G	ENSP00000219476.3:p.Val1339=
ENST00000350773.8:c.3948C>G	ENSP00000344383.4:p.Val1316=
ENST00000382538.10:c.3672C>G	ENSP00000371978.6:p.Val1224=
ENST00000401874.6:c.3816C>G	ENSP00000384468.2:p.Val1272=
ENST00000439117.6:c.*3184C>G	ENSP00000406980.2:n.*3184C>G
ENST00000439673.6:c.3708C>G	ENSP00000399232.2:p.Val1236=
ENST00000497886.5:n.1775C>G
ENST00000568454.5:c.3849C>G	ENSP00000454487.1:p.Val1283=
ENST00000569110.1:c.199C>G
ENST00000569930.1:n.1132C>G
NM_000548.3:c.4017C>G , LRG_487t1:c.4017C>G	NP_000539.2:p.Val1339=
NM_001077183.1:c.3816C>G	NP_001070651.1:p.Val1272=
NM_001114382.1:c.3948C>G	NP_001107854.1:p.Val1316=
XM_005255529.3:c.3888C>G	XP_005255586.2:p.Val1296=
XM_005255531.3:c.3819C>G	XP_005255588.2:p.Val1273=
XM_011522636.1:c.4071C>G	XP_011520938.1:p.Val1357=
XM_011522637.1:c.4068C>G	XP_011520939.1:p.Val1356=
XM_011522638.1:c.3960C>G	XP_011520940.1:p.Val1320=
XM_011522639.1:c.3942C>G	XP_011520941.1:p.Val1314=
XM_011522640.1:c.3939C>G	XP_011520942.1:p.Val1313=
XM_011522641.1:c.3708C>G	XP_011520943.1:p.Val1236=
NM_000548.4:c.4017C>G	NP_000539.2:p.Val1339=
NM_001077183.2:c.3816C>G	NP_001070651.1:p.Val1272=
NM_001114382.2:c.3948C>G	NP_001107854.1:p.Val1316=
NM_001318827.1:c.3708C>G	NP_001305756.1:p.Val1236=
NM_001318829.1:c.3672C>G	NP_001305758.1:p.Val1224=
NM_001318831.1:c.3285C>G	NP_001305760.1:p.Val1095=
NM_001318832.1:c.3849C>G	NP_001305761.1:p.Val1283=
NM_001363528.1:c.3819C>G	NP_001350457.1:p.Val1273=
NM_021055.2:c.3888C>G	NP_066399.2:p.Val1296=
XM_005255531.4:c.3819C>G	XP_005255588.2:p.Val1273=
XM_011522636.2:c.4071C>G	XP_011520938.1:p.Val1357=
XM_011522637.2:c.4068C>G	XP_011520939.1:p.Val1356=
XM_011522638.2:c.4233C>G	XP_011520940.2:p.Val1411=
XM_011522639.2:c.3942C>G	XP_011520941.1:p.Val1314=
XM_011522640.2:c.3939C>G	XP_011520942.1:p.Val1313=
XM_017023615.1:c.4014C>G	XP_016879104.1:p.Val1338=
XM_017023616.1:c.3885C>G	XP_016879105.1:p.Val1295=
XM_017023617.1:c.3981C>G	XP_016879106.1:p.Val1327=
XM_017023618.1:c.2727C>G	XP_016879107.1:p.Val909=
XM_024450413.1:c.3816C>G	XP_024306181.1:p.Val1272=
NM_000548.5:c.4017C>G MANE Select	NP_000539.2:p.Val1339=
NM_001370404.1:c.3885C>G	NP_001357333.1:p.Val1295=
NM_001370405.1:c.3888C>G	NP_001357334.1:p.Val1296=
NM_001077183.3:c.3816C>G	NP_001070651.1:p.Val1272=
NM_001114382.3:c.3948C>G	NP_001107854.1:p.Val1316=
NM_001318827.2:c.3708C>G	NP_001305756.1:p.Val1236=
NM_001318829.2:c.3672C>G	NP_001305758.1:p.Val1224=
NM_001318831.2:c.3285C>G	NP_001305760.1:p.Val1095=
NM_001318832.2:c.3849C>G	NP_001305761.1:p.Val1283=
NM_001363528.2:c.3819C>G	NP_001350457.1:p.Val1273=
NM_021055.3:c.3888C>G	NP_066399.2:p.Val1296=