Canonical Allele Identifier: CA493043279

Gene: TSC2

Linked Data

• ClinVar Variation Id: 536093
• ClinVar RCV Id: RCV000644396
• dbSNP Id: rs1193907816
• gnomAD v2: 16-2134453-G-C
• gnomAD v4: 16-2084452-G-C
• MyVariant Identifiers: chr16:g.2134453G>C (hg19) ; chr16:g.2084452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084452G>C , CM000678.2:g.2084452G>C	GRCh38
NC_000016.9:g.2134453G>C , CM000678.1:g.2134453G>C	GRCh37
NC_000016.8:g.2074454G>C	NCBI36
NG_005895.1:g.40147G>C , LRG_487:g.40147G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2579G>C	ENSP00000455997.2:n.*2579G>C
ENST00000642206.2:c.4077G>C	ENSP00000495146.2:p.Leu1359=
ENST00000642365.2:c.4227G>C	ENSP00000495459.2:p.Leu1409=
ENST00000644417.2:c.*4610G>C	ENSP00000493912.2:n.*4610G>C
ENST00000646464.2:c.*6979G>C	ENSP00000496610.2:n.*6979G>C
ENST00000219476.9:c.4230G>C MANE Select	ENSP00000219476.3:p.Leu1410=
ENST00000350773.9:c.4161G>C	ENSP00000344383.4:p.Leu1387=
ENST00000401874.7:c.4029G>C	ENSP00000384468.2:p.Leu1343=
ENST00000568454.6:c.4062G>C	ENSP00000454487.1:p.Leu1354=
ENST00000569110.2:c.466G>C
ENST00000569930.2:n.2112G>C
ENST00000642365.1:c.2884G>C
ENST00000642561.1:c.4101G>C	ENSP00000495099.1:p.Leu1367=
ENST00000642728.1:n.412G>C
ENST00000642797.1:c.4032G>C	ENSP00000493846.1:p.Leu1344=
ENST00000642936.1:c.4098G>C	ENSP00000494514.1:p.Leu1366=
ENST00000643088.1:c.4029G>C	ENSP00000494747.1:p.Leu1343=
ENST00000643177.1:n.244G>C
ENST00000643426.1:n.1878G>C
ENST00000643946.1:c.4161G>C	ENSP00000495927.1:p.Leu1387=
ENST00000644043.1:c.4101G>C	ENSP00000496262.1:p.Leu1367=
ENST00000644329.1:c.4029G>C	ENSP00000496611.1:p.Leu1343=
ENST00000644335.1:c.4032G>C	ENSP00000496317.1:p.Leu1344=
ENST00000644399.1:c.4151G>C
ENST00000645024.1:n.2314G>C
ENST00000645186.1:c.473G>C
ENST00000646388.1:c.4230G>C	ENSP00000495921.1:p.Leu1410=
ENST00000646634.1:n.3045G>C
ENST00000646674.1:n.1482G>C
ENST00000647042.1:n.1453G>C
ENST00000647180.1:n.1343G>C
ENST00000219476.7:c.4230G>C	ENSP00000219476.3:p.Leu1410=
ENST00000350773.8:c.4161G>C	ENSP00000344383.4:p.Leu1387=
ENST00000382538.10:c.3885G>C	ENSP00000371978.6:p.Leu1295=
ENST00000401874.6:c.4029G>C	ENSP00000384468.2:p.Leu1343=
ENST00000439117.6:c.*3397G>C	ENSP00000406980.2:n.*3397G>C
ENST00000439673.6:c.3921G>C	ENSP00000399232.2:p.Leu1307=
ENST00000497886.5:n.1988G>C
ENST00000568454.5:c.4062G>C	ENSP00000454487.1:p.Leu1354=
ENST00000569110.1:c.412G>C
ENST00000569930.1:n.1345G>C
NM_000548.3:c.4230G>C , LRG_487t1:c.4230G>C	NP_000539.2:p.Leu1410=
NM_001077183.1:c.4029G>C	NP_001070651.1:p.Leu1343=
NM_001114382.1:c.4161G>C	NP_001107854.1:p.Leu1387=
XM_005255529.3:c.4101G>C	XP_005255586.2:p.Leu1367=
XM_005255531.3:c.4032G>C	XP_005255588.2:p.Leu1344=
XM_011522636.1:c.4284G>C	XP_011520938.1:p.Leu1428=
XM_011522637.1:c.4281G>C	XP_011520939.1:p.Leu1427=
XM_011522638.1:c.4173G>C	XP_011520940.1:p.Leu1391=
XM_011522639.1:c.4155G>C	XP_011520941.1:p.Leu1385=
XM_011522640.1:c.4152G>C	XP_011520942.1:p.Leu1384=
XM_011522641.1:c.3921G>C	XP_011520943.1:p.Leu1307=
NM_000548.4:c.4230G>C	NP_000539.2:p.Leu1410=
NM_001077183.2:c.4029G>C	NP_001070651.1:p.Leu1343=
NM_001114382.2:c.4161G>C	NP_001107854.1:p.Leu1387=
NM_001318827.1:c.3921G>C	NP_001305756.1:p.Leu1307=
NM_001318829.1:c.3885G>C	NP_001305758.1:p.Leu1295=
NM_001318831.1:c.3498G>C	NP_001305760.1:p.Leu1166=
NM_001318832.1:c.4062G>C	NP_001305761.1:p.Leu1354=
NM_001363528.1:c.4032G>C	NP_001350457.1:p.Leu1344=
NM_021055.2:c.4101G>C	NP_066399.2:p.Leu1367=
XM_005255531.4:c.4032G>C	XP_005255588.2:p.Leu1344=
XM_011522636.2:c.4284G>C	XP_011520938.1:p.Leu1428=
XM_011522637.2:c.4281G>C	XP_011520939.1:p.Leu1427=
XM_011522638.2:c.4446G>C	XP_011520940.2:p.Leu1482=
XM_011522639.2:c.4155G>C	XP_011520941.1:p.Leu1385=
XM_011522640.2:c.4152G>C	XP_011520942.1:p.Leu1384=
XM_017023615.1:c.4227G>C	XP_016879104.1:p.Leu1409=
XM_017023616.1:c.4098G>C	XP_016879105.1:p.Leu1366=
XM_017023617.1:c.4194G>C	XP_016879106.1:p.Leu1398=
XM_017023618.1:c.2940G>C	XP_016879107.1:p.Leu980=
XM_024450413.1:c.4029G>C	XP_024306181.1:p.Leu1343=
NM_000548.5:c.4230G>C MANE Select	NP_000539.2:p.Leu1410=
NM_001370404.1:c.4098G>C	NP_001357333.1:p.Leu1366=
NM_001370405.1:c.4101G>C	NP_001357334.1:p.Leu1367=
NM_001077183.3:c.4029G>C	NP_001070651.1:p.Leu1343=
NM_001114382.3:c.4161G>C	NP_001107854.1:p.Leu1387=
NM_001318827.2:c.3921G>C	NP_001305756.1:p.Leu1307=
NM_001318829.2:c.3885G>C	NP_001305758.1:p.Leu1295=
NM_001318831.2:c.3498G>C	NP_001305760.1:p.Leu1166=
NM_001318832.2:c.4062G>C	NP_001305761.1:p.Leu1354=
NM_001363528.2:c.4032G>C	NP_001350457.1:p.Leu1344=
NM_021055.3:c.4101G>C	NP_066399.2:p.Leu1367=