Canonical Allele Identifier: CA018749

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50055
• ClinVar RCV Id: RCV000043321 ; RCV003511999
• dbSNP Id: rs45517287
• MyVariant Identifiers: chr16:g.2129399C>A (hg19) ; chr16:g.2079398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079398C>A , CM000678.2:g.2079398C>A	GRCh38
NC_000016.9:g.2129399C>A , CM000678.1:g.2129399C>A	GRCh37
NC_000016.8:g.2069400C>A	NCBI36
NG_005895.1:g.35093C>A , LRG_487:g.35093C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1672C>A	ENSP00000455997.2:n.*1672C>A
ENST00000642206.2:c.3170C>A	ENSP00000495146.2:p.Ser1057Ter
ENST00000642365.2:c.3251C>A	ENSP00000495459.2:p.Ser1084Ter
ENST00000644417.2:c.*3703C>A	ENSP00000493912.2:n.*3703C>A
ENST00000646464.2:c.*4176C>A	ENSP00000496610.2:n.*4176C>A
ENST00000219476.9:c.3254C>A MANE Select	ENSP00000219476.3:p.Ser1085Ter
ENST00000350773.9:c.3254C>A	ENSP00000344383.4:p.Ser1085Ter
ENST00000401874.7:c.3122C>A	ENSP00000384468.2:p.Ser1041Ter
ENST00000471143.6:c.482C>A	ENSP00000458541.2:n.482C>A
ENST00000568454.6:c.3155C>A	ENSP00000454487.1:p.Ser1052Ter
ENST00000642365.1:c.1908C>A
ENST00000642561.1:c.3125C>A	ENSP00000495099.1:p.Ser1042Ter
ENST00000642797.1:c.3125C>A	ENSP00000493846.1:p.Ser1042Ter
ENST00000642936.1:c.3122C>A	ENSP00000494514.1:p.Ser1041Ter
ENST00000643088.1:c.3122C>A	ENSP00000494747.1:p.Ser1041Ter
ENST00000643946.1:c.3254C>A	ENSP00000495927.1:p.Ser1085Ter
ENST00000644043.1:c.3125C>A	ENSP00000496262.1:p.Ser1042Ter
ENST00000644329.1:c.3122C>A	ENSP00000496611.1:p.Ser1041Ter
ENST00000644335.1:c.3125C>A	ENSP00000496317.1:p.Ser1042Ter
ENST00000644399.1:c.3244C>A
ENST00000644722.1:n.400C>A
ENST00000645024.1:n.1407C>A
ENST00000646388.1:c.3254C>A	ENSP00000495921.1:p.Ser1085Ter
ENST00000646634.1:n.2138C>A
ENST00000647042.1:n.546C>A
ENST00000219476.7:c.3254C>A	ENSP00000219476.3:p.Ser1085Ter
ENST00000350773.8:c.3254C>A	ENSP00000344383.4:p.Ser1085Ter
ENST00000382538.10:c.2978C>A	ENSP00000371978.6:p.Ser993Ter
ENST00000401874.6:c.3122C>A	ENSP00000384468.2:p.Ser1041Ter
ENST00000439117.6:c.*2421C>A	ENSP00000406980.2:n.*2421C>A
ENST00000439673.6:c.3014C>A	ENSP00000399232.2:p.Ser1005Ter
ENST00000471143.5:c.480C>A
ENST00000483020.5:c.494C>A	ENSP00000460310.1:n.494C>A
ENST00000497886.5:n.1081C>A
ENST00000561695.1:n.479C>A
ENST00000568366.5:n.611C>A
ENST00000568454.5:c.3155C>A	ENSP00000454487.1:p.Ser1052Ter
NM_000548.3:c.3254C>A , LRG_487t1:c.3254C>A	NP_000539.2:p.Ser1085Ter
NM_001077183.1:c.3122C>A	NP_001070651.1:p.Ser1041Ter
NM_001114382.1:c.3254C>A	NP_001107854.1:p.Ser1085Ter
XM_005255529.3:c.3125C>A	XP_005255586.2:p.Ser1042Ter
XM_005255531.3:c.3125C>A	XP_005255588.2:p.Ser1042Ter
XM_011522636.1:c.3254C>A	XP_011520938.1:p.Ser1085Ter
XM_011522637.1:c.3251C>A	XP_011520939.1:p.Ser1084Ter
XM_011522638.1:c.3143C>A	XP_011520940.1:p.Ser1048Ter
XM_011522639.1:c.3125C>A	XP_011520941.1:p.Ser1042Ter
XM_011522640.1:c.3122C>A	XP_011520942.1:p.Ser1041Ter
XM_011522641.1:c.3014C>A	XP_011520943.1:p.Ser1005Ter
NM_000548.4:c.3254C>A	NP_000539.2:p.Ser1085Ter
NM_001077183.2:c.3122C>A	NP_001070651.1:p.Ser1041Ter
NM_001114382.2:c.3254C>A	NP_001107854.1:p.Ser1085Ter
NM_001318827.1:c.3014C>A	NP_001305756.1:p.Ser1005Ter
NM_001318829.1:c.2978C>A	NP_001305758.1:p.Ser993Ter
NM_001318831.1:c.2522C>A	NP_001305760.1:p.Ser841Ter
NM_001318832.1:c.3155C>A	NP_001305761.1:p.Ser1052Ter
NM_001363528.1:c.3125C>A	NP_001350457.1:p.Ser1042Ter
NM_021055.2:c.3125C>A	NP_066399.2:p.Ser1042Ter
XM_005255531.4:c.3125C>A	XP_005255588.2:p.Ser1042Ter
XM_011522636.2:c.3254C>A	XP_011520938.1:p.Ser1085Ter
XM_011522637.2:c.3251C>A	XP_011520939.1:p.Ser1084Ter
XM_011522638.2:c.3416C>A	XP_011520940.2:p.Ser1139Ter
XM_011522639.2:c.3125C>A	XP_011520941.1:p.Ser1042Ter
XM_011522640.2:c.3122C>A	XP_011520942.1:p.Ser1041Ter
XM_017023615.1:c.3251C>A	XP_016879104.1:p.Ser1084Ter
XM_017023616.1:c.3122C>A	XP_016879105.1:p.Ser1041Ter
XM_017023617.1:c.3287C>A	XP_016879106.1:p.Ser1096Ter
XM_017023618.1:c.1910C>A	XP_016879107.1:p.Ser637Ter
XM_024450413.1:c.3122C>A	XP_024306181.1:p.Ser1041Ter
NM_000548.5:c.3254C>A MANE Select	NP_000539.2:p.Ser1085Ter
NM_001370404.1:c.3122C>A	NP_001357333.1:p.Ser1041Ter
NM_001370405.1:c.3125C>A	NP_001357334.1:p.Ser1042Ter
NM_001077183.3:c.3122C>A	NP_001070651.1:p.Ser1041Ter
NM_001114382.3:c.3254C>A	NP_001107854.1:p.Ser1085Ter
NM_001318827.2:c.3014C>A	NP_001305756.1:p.Ser1005Ter
NM_001318829.2:c.2978C>A	NP_001305758.1:p.Ser993Ter
NM_001318831.2:c.2522C>A	NP_001305760.1:p.Ser841Ter
NM_001318832.2:c.3155C>A	NP_001305761.1:p.Ser1052Ter
NM_001363528.2:c.3125C>A	NP_001350457.1:p.Ser1042Ter
NM_021055.3:c.3125C>A	NP_066399.2:p.Ser1042Ter