Canonical Allele Identifier: CA10579897

Gene: TSC2

Linked Data

• ClinVar Variation Id: 231318
• ClinVar RCV Id: RCV000216974 ; RCV000644390
• dbSNP Id: rs876659087
• gnomAD v4: 16-2083792-C-G
• MyVariant Identifiers: chr16:g.2133793C>G (hg19) ; chr16:g.2083792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2083792C>G , CM000678.2:g.2083792C>G	GRCh38
NC_000016.9:g.2133793C>G , CM000678.1:g.2133793C>G	GRCh37
NC_000016.8:g.2073794C>G	NCBI36
NG_005895.1:g.39487C>G , LRG_487:g.39487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2330C>G	ENSP00000455997.2:n.*2330C>G
ENST00000642206.2:c.3828C>G	ENSP00000495146.2:p.Asp1276Glu
ENST00000642365.2:c.3978C>G	ENSP00000495459.2:p.Asp1326Glu
ENST00000644417.2:c.*4361C>G	ENSP00000493912.2:n.*4361C>G
ENST00000646464.2:c.*6730C>G	ENSP00000496610.2:n.*6730C>G
ENST00000219476.9:c.3981C>G MANE Select	ENSP00000219476.3:p.Asp1327Glu
ENST00000350773.9:c.3912C>G	ENSP00000344383.4:p.Asp1304Glu
ENST00000401874.7:c.3780C>G	ENSP00000384468.2:p.Asp1260Glu
ENST00000568454.6:c.3813C>G	ENSP00000454487.1:p.Asp1271Glu
ENST00000569110.2:c.217C>G
ENST00000569930.2:n.1863C>G
ENST00000642365.1:c.2635C>G
ENST00000642561.1:c.3852C>G	ENSP00000495099.1:p.Asp1284Glu
ENST00000642728.1:n.163C>G
ENST00000642797.1:c.3783C>G	ENSP00000493846.1:p.Asp1261Glu
ENST00000642936.1:c.3849C>G	ENSP00000494514.1:p.Asp1283Glu
ENST00000643088.1:c.3780C>G	ENSP00000494747.1:p.Asp1260Glu
ENST00000643426.1:n.1629C>G
ENST00000643533.1:n.422C>G
ENST00000643946.1:c.3912C>G	ENSP00000495927.1:p.Asp1304Glu
ENST00000644043.1:c.3852C>G	ENSP00000496262.1:p.Asp1284Glu
ENST00000644329.1:c.3780C>G	ENSP00000496611.1:p.Asp1260Glu
ENST00000644335.1:c.3783C>G	ENSP00000496317.1:p.Asp1261Glu
ENST00000644399.1:c.3902C>G
ENST00000645024.1:n.2065C>G
ENST00000645186.1:c.224C>G
ENST00000646388.1:c.3981C>G	ENSP00000495921.1:p.Asp1327Glu
ENST00000646634.1:n.2796C>G
ENST00000646674.1:n.1233C>G
ENST00000647042.1:n.1204C>G
ENST00000647180.1:n.1094C>G
ENST00000219476.7:c.3981C>G	ENSP00000219476.3:p.Asp1327Glu
ENST00000350773.8:c.3912C>G	ENSP00000344383.4:p.Asp1304Glu
ENST00000382538.10:c.3636C>G	ENSP00000371978.6:p.Asp1212Glu
ENST00000401874.6:c.3780C>G	ENSP00000384468.2:p.Asp1260Glu
ENST00000439117.6:c.*3148C>G	ENSP00000406980.2:n.*3148C>G
ENST00000439673.6:c.3672C>G	ENSP00000399232.2:p.Asp1224Glu
ENST00000497886.5:n.1739C>G
ENST00000568454.5:c.3813C>G	ENSP00000454487.1:p.Asp1271Glu
ENST00000569110.1:c.163C>G
ENST00000569930.1:n.1096C>G
NM_000548.3:c.3981C>G , LRG_487t1:c.3981C>G	NP_000539.2:p.Asp1327Glu
NM_001077183.1:c.3780C>G	NP_001070651.1:p.Asp1260Glu
NM_001114382.1:c.3912C>G	NP_001107854.1:p.Asp1304Glu
XM_005255529.3:c.3852C>G	XP_005255586.2:p.Asp1284Glu
XM_005255531.3:c.3783C>G	XP_005255588.2:p.Asp1261Glu
XM_011522636.1:c.4035C>G	XP_011520938.1:p.Asp1345Glu
XM_011522637.1:c.4032C>G	XP_011520939.1:p.Asp1344Glu
XM_011522638.1:c.3924C>G	XP_011520940.1:p.Asp1308Glu
XM_011522639.1:c.3906C>G	XP_011520941.1:p.Asp1302Glu
XM_011522640.1:c.3903C>G	XP_011520942.1:p.Asp1301Glu
XM_011522641.1:c.3672C>G	XP_011520943.1:p.Asp1224Glu
NM_000548.4:c.3981C>G	NP_000539.2:p.Asp1327Glu
NM_001077183.2:c.3780C>G	NP_001070651.1:p.Asp1260Glu
NM_001114382.2:c.3912C>G	NP_001107854.1:p.Asp1304Glu
NM_001318827.1:c.3672C>G	NP_001305756.1:p.Asp1224Glu
NM_001318829.1:c.3636C>G	NP_001305758.1:p.Asp1212Glu
NM_001318831.1:c.3249C>G	NP_001305760.1:p.Asp1083Glu
NM_001318832.1:c.3813C>G	NP_001305761.1:p.Asp1271Glu
NM_001363528.1:c.3783C>G	NP_001350457.1:p.Asp1261Glu
NM_021055.2:c.3852C>G	NP_066399.2:p.Asp1284Glu
XM_005255531.4:c.3783C>G	XP_005255588.2:p.Asp1261Glu
XM_011522636.2:c.4035C>G	XP_011520938.1:p.Asp1345Glu
XM_011522637.2:c.4032C>G	XP_011520939.1:p.Asp1344Glu
XM_011522638.2:c.4197C>G	XP_011520940.2:p.Asp1399Glu
XM_011522639.2:c.3906C>G	XP_011520941.1:p.Asp1302Glu
XM_011522640.2:c.3903C>G	XP_011520942.1:p.Asp1301Glu
XM_017023615.1:c.3978C>G	XP_016879104.1:p.Asp1326Glu
XM_017023616.1:c.3849C>G	XP_016879105.1:p.Asp1283Glu
XM_017023617.1:c.3945C>G	XP_016879106.1:p.Asp1315Glu
XM_017023618.1:c.2691C>G	XP_016879107.1:p.Asp897Glu
XM_024450413.1:c.3780C>G	XP_024306181.1:p.Asp1260Glu
NM_000548.5:c.3981C>G MANE Select	NP_000539.2:p.Asp1327Glu
NM_001370404.1:c.3849C>G	NP_001357333.1:p.Asp1283Glu
NM_001370405.1:c.3852C>G	NP_001357334.1:p.Asp1284Glu
NM_001077183.3:c.3780C>G	NP_001070651.1:p.Asp1260Glu
NM_001114382.3:c.3912C>G	NP_001107854.1:p.Asp1304Glu
NM_001318827.2:c.3672C>G	NP_001305756.1:p.Asp1224Glu
NM_001318829.2:c.3636C>G	NP_001305758.1:p.Asp1212Glu
NM_001318831.2:c.3249C>G	NP_001305760.1:p.Asp1083Glu
NM_001318832.2:c.3813C>G	NP_001305761.1:p.Asp1271Glu
NM_001363528.2:c.3783C>G	NP_001350457.1:p.Asp1261Glu
NM_021055.3:c.3852C>G	NP_066399.2:p.Asp1284Glu