Canonical Allele Identifier: CA020588

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65087
• ClinVar RCV Id: RCV000055298 ; RCV001281109
• dbSNP Id: rs45471791
• MyVariant Identifiers: chr16:g.2134973C>G (hg19) ; chr16:g.2084972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084972C>G , CM000678.2:g.2084972C>G	GRCh38
NC_000016.9:g.2134973C>G , CM000678.1:g.2134973C>G	GRCh37
NC_000016.8:g.2074974C>G	NCBI36
NG_005895.1:g.40667C>G , LRG_487:g.40667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2864C>G	ENSP00000455997.2:n.*2864C>G
ENST00000642206.2:c.4362C>G	ENSP00000495146.2:p.Tyr1454Ter
ENST00000642365.2:c.4512C>G	ENSP00000495459.2:p.Tyr1504Ter
ENST00000644417.2:c.*4895C>G	ENSP00000493912.2:n.*4895C>G
ENST00000646464.2:c.*7264C>G	ENSP00000496610.2:n.*7264C>G
ENST00000219476.9:c.4515C>G MANE Select	ENSP00000219476.3:p.Tyr1505Ter
ENST00000350773.9:c.4446C>G	ENSP00000344383.4:p.Tyr1482Ter
ENST00000401874.7:c.4314C>G	ENSP00000384468.2:p.Tyr1438Ter
ENST00000568454.6:c.4347C>G	ENSP00000454487.1:p.Tyr1449Ter
ENST00000569110.2:c.738C>G
ENST00000569930.2:n.2397C>G
ENST00000642365.1:c.3169C>G
ENST00000642561.1:c.4386C>G	ENSP00000495099.1:p.Tyr1462Ter
ENST00000642728.1:n.697C>G
ENST00000642797.1:c.4317C>G	ENSP00000493846.1:p.Tyr1439Ter
ENST00000642936.1:c.4383C>G	ENSP00000494514.1:p.Tyr1461Ter
ENST00000643088.1:c.4314C>G	ENSP00000494747.1:p.Tyr1438Ter
ENST00000643177.1:n.529C>G
ENST00000643426.1:n.2163C>G
ENST00000643946.1:c.4446C>G	ENSP00000495927.1:p.Tyr1482Ter
ENST00000644043.1:c.4386C>G	ENSP00000496262.1:p.Tyr1462Ter
ENST00000644329.1:c.4314C>G	ENSP00000496611.1:p.Tyr1438Ter
ENST00000644335.1:c.4317C>G	ENSP00000496317.1:p.Tyr1439Ter
ENST00000644399.1:c.4436C>G
ENST00000645024.1:n.2599C>G
ENST00000646388.1:c.4515C>G	ENSP00000495921.1:p.Tyr1505Ter
ENST00000646634.1:n.3330C>G
ENST00000646674.1:n.1767C>G
ENST00000647042.1:n.1738C>G
ENST00000647180.1:n.1628C>G
ENST00000219476.7:c.4515C>G	ENSP00000219476.3:p.Tyr1505Ter
ENST00000350773.8:c.4446C>G	ENSP00000344383.4:p.Tyr1482Ter
ENST00000382538.10:c.4170C>G	ENSP00000371978.6:p.Tyr1390Ter
ENST00000401874.6:c.4314C>G	ENSP00000384468.2:p.Tyr1438Ter
ENST00000439117.6:c.*3682C>G	ENSP00000406980.2:n.*3682C>G
ENST00000439673.6:c.4206C>G	ENSP00000399232.2:p.Tyr1402Ter
ENST00000497886.5:n.2273C>G
ENST00000568454.5:c.4347C>G	ENSP00000454487.1:p.Tyr1449Ter
ENST00000569110.1:c.697C>G
ENST00000569930.1:n.1630C>G
NM_000548.3:c.4515C>G , LRG_487t1:c.4515C>G	NP_000539.2:p.Tyr1505Ter
NM_001077183.1:c.4314C>G	NP_001070651.1:p.Tyr1438Ter
NM_001114382.1:c.4446C>G	NP_001107854.1:p.Tyr1482Ter
XM_005255529.3:c.4386C>G	XP_005255586.2:p.Tyr1462Ter
XM_005255531.3:c.4317C>G	XP_005255588.2:p.Tyr1439Ter
XM_011522636.1:c.4569C>G	XP_011520938.1:p.Tyr1523Ter
XM_011522637.1:c.4566C>G	XP_011520939.1:p.Tyr1522Ter
XM_011522638.1:c.4458C>G	XP_011520940.1:p.Tyr1486Ter
XM_011522639.1:c.4440C>G	XP_011520941.1:p.Tyr1480Ter
XM_011522640.1:c.4437C>G	XP_011520942.1:p.Tyr1479Ter
XM_011522641.1:c.4206C>G	XP_011520943.1:p.Tyr1402Ter
NM_000548.4:c.4515C>G	NP_000539.2:p.Tyr1505Ter
NM_001077183.2:c.4314C>G	NP_001070651.1:p.Tyr1438Ter
NM_001114382.2:c.4446C>G	NP_001107854.1:p.Tyr1482Ter
NM_001318827.1:c.4206C>G	NP_001305756.1:p.Tyr1402Ter
NM_001318829.1:c.4170C>G	NP_001305758.1:p.Tyr1390Ter
NM_001318831.1:c.3783C>G	NP_001305760.1:p.Tyr1261Ter
NM_001318832.1:c.4347C>G	NP_001305761.1:p.Tyr1449Ter
NM_001363528.1:c.4317C>G	NP_001350457.1:p.Tyr1439Ter
NM_021055.2:c.4386C>G	NP_066399.2:p.Tyr1462Ter
XM_005255531.4:c.4317C>G	XP_005255588.2:p.Tyr1439Ter
XM_011522636.2:c.4569C>G	XP_011520938.1:p.Tyr1523Ter
XM_011522637.2:c.4566C>G	XP_011520939.1:p.Tyr1522Ter
XM_011522638.2:c.4731C>G	XP_011520940.2:p.Tyr1577Ter
XM_011522639.2:c.4440C>G	XP_011520941.1:p.Tyr1480Ter
XM_011522640.2:c.4437C>G	XP_011520942.1:p.Tyr1479Ter
XM_017023615.1:c.4512C>G	XP_016879104.1:p.Tyr1504Ter
XM_017023616.1:c.4383C>G	XP_016879105.1:p.Tyr1461Ter
XM_017023617.1:c.4479C>G	XP_016879106.1:p.Tyr1493Ter
XM_017023618.1:c.3225C>G	XP_016879107.1:p.Tyr1075Ter
XM_024450413.1:c.4314C>G	XP_024306181.1:p.Tyr1438Ter
NM_000548.5:c.4515C>G MANE Select	NP_000539.2:p.Tyr1505Ter
NM_001370404.1:c.4383C>G	NP_001357333.1:p.Tyr1461Ter
NM_001370405.1:c.4386C>G	NP_001357334.1:p.Tyr1462Ter
NM_001077183.3:c.4314C>G	NP_001070651.1:p.Tyr1438Ter
NM_001114382.3:c.4446C>G	NP_001107854.1:p.Tyr1482Ter
NM_001318827.2:c.4206C>G	NP_001305756.1:p.Tyr1402Ter
NM_001318829.2:c.4170C>G	NP_001305758.1:p.Tyr1390Ter
NM_001318831.2:c.3783C>G	NP_001305760.1:p.Tyr1261Ter
NM_001318832.2:c.4347C>G	NP_001305761.1:p.Tyr1449Ter
NM_001363528.2:c.4317C>G	NP_001350457.1:p.Tyr1439Ter
NM_021055.3:c.4386C>G	NP_066399.2:p.Tyr1462Ter