Canonical Allele Identifier: CA019945

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49555
• ClinVar RCV Id: RCV000042815 ; RCV000201169 ; RCV000760364
• dbSNP Id: rs45517327
• MyVariant Identifiers: chr16:g.2134319G>T (hg19) ; chr16:g.2084318G>T (hg38)
• PubMed: PMID:11112665

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084318G>T , CM000678.2:g.2084318G>T	GRCh38
NC_000016.9:g.2134319G>T , CM000678.1:g.2134319G>T	GRCh37
NC_000016.8:g.2074320G>T	NCBI36
NG_005895.1:g.40013G>T , LRG_487:g.40013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2445G>T	ENSP00000455997.2:n.*2445G>T
ENST00000642206.2:c.3943G>T	ENSP00000495146.2:p.Glu1315Ter
ENST00000642365.2:c.4093G>T	ENSP00000495459.2:p.Glu1365Ter
ENST00000644417.2:c.*4476G>T	ENSP00000493912.2:n.*4476G>T
ENST00000646464.2:c.*6845G>T	ENSP00000496610.2:n.*6845G>T
ENST00000219476.9:c.4096G>T MANE Select	ENSP00000219476.3:p.Glu1366Ter
ENST00000350773.9:c.4027G>T	ENSP00000344383.4:p.Glu1343Ter
ENST00000401874.7:c.3895G>T	ENSP00000384468.2:p.Glu1299Ter
ENST00000568454.6:c.3928G>T	ENSP00000454487.1:p.Glu1310Ter
ENST00000569110.2:c.332G>T
ENST00000569930.2:n.1978G>T
ENST00000642365.1:c.2750G>T
ENST00000642561.1:c.3967G>T	ENSP00000495099.1:p.Glu1323Ter
ENST00000642728.1:n.278G>T
ENST00000642797.1:c.3898G>T	ENSP00000493846.1:p.Glu1300Ter
ENST00000642936.1:c.3964G>T	ENSP00000494514.1:p.Glu1322Ter
ENST00000643088.1:c.3895G>T	ENSP00000494747.1:p.Glu1299Ter
ENST00000643177.1:n.110G>T
ENST00000643426.1:n.1744G>T
ENST00000643946.1:c.4027G>T	ENSP00000495927.1:p.Glu1343Ter
ENST00000644043.1:c.3967G>T	ENSP00000496262.1:p.Glu1323Ter
ENST00000644329.1:c.3895G>T	ENSP00000496611.1:p.Glu1299Ter
ENST00000644335.1:c.3898G>T	ENSP00000496317.1:p.Glu1300Ter
ENST00000644399.1:c.4017G>T
ENST00000645024.1:n.2180G>T
ENST00000645186.1:c.339G>T
ENST00000646388.1:c.4096G>T	ENSP00000495921.1:p.Glu1366Ter
ENST00000646634.1:n.2911G>T
ENST00000646674.1:n.1348G>T
ENST00000647042.1:n.1319G>T
ENST00000647180.1:n.1209G>T
ENST00000219476.7:c.4096G>T	ENSP00000219476.3:p.Glu1366Ter
ENST00000350773.8:c.4027G>T	ENSP00000344383.4:p.Glu1343Ter
ENST00000382538.10:c.3751G>T	ENSP00000371978.6:p.Glu1251Ter
ENST00000401874.6:c.3895G>T	ENSP00000384468.2:p.Glu1299Ter
ENST00000439117.6:c.*3263G>T	ENSP00000406980.2:n.*3263G>T
ENST00000439673.6:c.3787G>T	ENSP00000399232.2:p.Glu1263Ter
ENST00000497886.5:n.1854G>T
ENST00000568454.5:c.3928G>T	ENSP00000454487.1:p.Glu1310Ter
ENST00000569110.1:c.278G>T
ENST00000569930.1:n.1211G>T
NM_000548.3:c.4096G>T , LRG_487t1:c.4096G>T	NP_000539.2:p.Glu1366Ter
NM_001077183.1:c.3895G>T	NP_001070651.1:p.Glu1299Ter
NM_001114382.1:c.4027G>T	NP_001107854.1:p.Glu1343Ter
XM_005255529.3:c.3967G>T	XP_005255586.2:p.Glu1323Ter
XM_005255531.3:c.3898G>T	XP_005255588.2:p.Glu1300Ter
XM_011522636.1:c.4150G>T	XP_011520938.1:p.Glu1384Ter
XM_011522637.1:c.4147G>T	XP_011520939.1:p.Glu1383Ter
XM_011522638.1:c.4039G>T	XP_011520940.1:p.Glu1347Ter
XM_011522639.1:c.4021G>T	XP_011520941.1:p.Glu1341Ter
XM_011522640.1:c.4018G>T	XP_011520942.1:p.Glu1340Ter
XM_011522641.1:c.3787G>T	XP_011520943.1:p.Glu1263Ter
NM_000548.4:c.4096G>T	NP_000539.2:p.Glu1366Ter
NM_001077183.2:c.3895G>T	NP_001070651.1:p.Glu1299Ter
NM_001114382.2:c.4027G>T	NP_001107854.1:p.Glu1343Ter
NM_001318827.1:c.3787G>T	NP_001305756.1:p.Glu1263Ter
NM_001318829.1:c.3751G>T	NP_001305758.1:p.Glu1251Ter
NM_001318831.1:c.3364G>T	NP_001305760.1:p.Glu1122Ter
NM_001318832.1:c.3928G>T	NP_001305761.1:p.Glu1310Ter
NM_001363528.1:c.3898G>T	NP_001350457.1:p.Glu1300Ter
NM_021055.2:c.3967G>T	NP_066399.2:p.Glu1323Ter
XM_005255531.4:c.3898G>T	XP_005255588.2:p.Glu1300Ter
XM_011522636.2:c.4150G>T	XP_011520938.1:p.Glu1384Ter
XM_011522637.2:c.4147G>T	XP_011520939.1:p.Glu1383Ter
XM_011522638.2:c.4312G>T	XP_011520940.2:p.Glu1438Ter
XM_011522639.2:c.4021G>T	XP_011520941.1:p.Glu1341Ter
XM_011522640.2:c.4018G>T	XP_011520942.1:p.Glu1340Ter
XM_017023615.1:c.4093G>T	XP_016879104.1:p.Glu1365Ter
XM_017023616.1:c.3964G>T	XP_016879105.1:p.Glu1322Ter
XM_017023617.1:c.4060G>T	XP_016879106.1:p.Glu1354Ter
XM_017023618.1:c.2806G>T	XP_016879107.1:p.Glu936Ter
XM_024450413.1:c.3895G>T	XP_024306181.1:p.Glu1299Ter
NM_000548.5:c.4096G>T MANE Select	NP_000539.2:p.Glu1366Ter
NM_001370404.1:c.3964G>T	NP_001357333.1:p.Glu1322Ter
NM_001370405.1:c.3967G>T	NP_001357334.1:p.Glu1323Ter
NM_001077183.3:c.3895G>T	NP_001070651.1:p.Glu1299Ter
NM_001114382.3:c.4027G>T	NP_001107854.1:p.Glu1343Ter
NM_001318827.2:c.3787G>T	NP_001305756.1:p.Glu1263Ter
NM_001318829.2:c.3751G>T	NP_001305758.1:p.Glu1251Ter
NM_001318831.2:c.3364G>T	NP_001305760.1:p.Glu1122Ter
NM_001318832.2:c.3928G>T	NP_001305761.1:p.Glu1310Ter
NM_001363528.2:c.3898G>T	NP_001350457.1:p.Glu1300Ter
NM_021055.3:c.3967G>T	NP_066399.2:p.Glu1323Ter