Canonical Allele Identifier: CA394300730

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468076
• ClinVar RCV Id: RCV000530101 ; RCV002330899 ; RCV003318590
• dbSNP Id: rs763497329
• gnomAD v4: 16-2084495-G-C
• MyVariant Identifiers: chr16:g.2134496G>C (hg19) ; chr16:g.2084495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084495G>C , CM000678.2:g.2084495G>C	GRCh38
NC_000016.9:g.2134496G>C , CM000678.1:g.2134496G>C	GRCh37
NC_000016.8:g.2074497G>C	NCBI36
NG_005895.1:g.40190G>C , LRG_487:g.40190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2622G>C	ENSP00000455997.2:n.*2622G>C
ENST00000642206.2:c.4120G>C	ENSP00000495146.2:p.Gly1374Arg
ENST00000642365.2:c.4270G>C	ENSP00000495459.2:p.Gly1424Arg
ENST00000644417.2:c.*4653G>C	ENSP00000493912.2:n.*4653G>C
ENST00000646464.2:c.*7022G>C	ENSP00000496610.2:n.*7022G>C
ENST00000219476.9:c.4273G>C MANE Select	ENSP00000219476.3:p.Gly1425Arg
ENST00000350773.9:c.4204G>C	ENSP00000344383.4:p.Gly1402Arg
ENST00000401874.7:c.4072G>C	ENSP00000384468.2:p.Gly1358Arg
ENST00000568454.6:c.4105G>C	ENSP00000454487.1:p.Gly1369Arg
ENST00000569110.2:c.509G>C
ENST00000569930.2:n.2155G>C
ENST00000642365.1:c.2927G>C
ENST00000642561.1:c.4144G>C	ENSP00000495099.1:p.Gly1382Arg
ENST00000642728.1:n.455G>C
ENST00000642797.1:c.4075G>C	ENSP00000493846.1:p.Gly1359Arg
ENST00000642936.1:c.4141G>C	ENSP00000494514.1:p.Gly1381Arg
ENST00000643088.1:c.4072G>C	ENSP00000494747.1:p.Gly1358Arg
ENST00000643177.1:n.287G>C
ENST00000643426.1:n.1921G>C
ENST00000643946.1:c.4204G>C	ENSP00000495927.1:p.Gly1402Arg
ENST00000644043.1:c.4144G>C	ENSP00000496262.1:p.Gly1382Arg
ENST00000644329.1:c.4072G>C	ENSP00000496611.1:p.Gly1358Arg
ENST00000644335.1:c.4075G>C	ENSP00000496317.1:p.Gly1359Arg
ENST00000644399.1:c.4194G>C
ENST00000645024.1:n.2357G>C
ENST00000645186.1:c.516G>C
ENST00000646388.1:c.4273G>C	ENSP00000495921.1:p.Gly1425Arg
ENST00000646634.1:n.3088G>C
ENST00000646674.1:n.1525G>C
ENST00000647042.1:n.1496G>C
ENST00000647180.1:n.1386G>C
ENST00000219476.7:c.4273G>C	ENSP00000219476.3:p.Gly1425Arg
ENST00000350773.8:c.4204G>C	ENSP00000344383.4:p.Gly1402Arg
ENST00000382538.10:c.3928G>C	ENSP00000371978.6:p.Gly1310Arg
ENST00000401874.6:c.4072G>C	ENSP00000384468.2:p.Gly1358Arg
ENST00000439117.6:c.*3440G>C	ENSP00000406980.2:n.*3440G>C
ENST00000439673.6:c.3964G>C	ENSP00000399232.2:p.Gly1322Arg
ENST00000497886.5:n.2031G>C
ENST00000568454.5:c.4105G>C	ENSP00000454487.1:p.Gly1369Arg
ENST00000569110.1:c.455G>C
ENST00000569930.1:n.1388G>C
NM_000548.3:c.4273G>C , LRG_487t1:c.4273G>C	NP_000539.2:p.Gly1425Arg
NM_001077183.1:c.4072G>C	NP_001070651.1:p.Gly1358Arg
NM_001114382.1:c.4204G>C	NP_001107854.1:p.Gly1402Arg
XM_005255529.3:c.4144G>C	XP_005255586.2:p.Gly1382Arg
XM_005255531.3:c.4075G>C	XP_005255588.2:p.Gly1359Arg
XM_011522636.1:c.4327G>C	XP_011520938.1:p.Gly1443Arg
XM_011522637.1:c.4324G>C	XP_011520939.1:p.Gly1442Arg
XM_011522638.1:c.4216G>C	XP_011520940.1:p.Gly1406Arg
XM_011522639.1:c.4198G>C	XP_011520941.1:p.Gly1400Arg
XM_011522640.1:c.4195G>C	XP_011520942.1:p.Gly1399Arg
XM_011522641.1:c.3964G>C	XP_011520943.1:p.Gly1322Arg
NM_000548.4:c.4273G>C	NP_000539.2:p.Gly1425Arg
NM_001077183.2:c.4072G>C	NP_001070651.1:p.Gly1358Arg
NM_001114382.2:c.4204G>C	NP_001107854.1:p.Gly1402Arg
NM_001318827.1:c.3964G>C	NP_001305756.1:p.Gly1322Arg
NM_001318829.1:c.3928G>C	NP_001305758.1:p.Gly1310Arg
NM_001318831.1:c.3541G>C	NP_001305760.1:p.Gly1181Arg
NM_001318832.1:c.4105G>C	NP_001305761.1:p.Gly1369Arg
NM_001363528.1:c.4075G>C	NP_001350457.1:p.Gly1359Arg
NM_021055.2:c.4144G>C	NP_066399.2:p.Gly1382Arg
XM_005255531.4:c.4075G>C	XP_005255588.2:p.Gly1359Arg
XM_011522636.2:c.4327G>C	XP_011520938.1:p.Gly1443Arg
XM_011522637.2:c.4324G>C	XP_011520939.1:p.Gly1442Arg
XM_011522638.2:c.4489G>C	XP_011520940.2:p.Gly1497Arg
XM_011522639.2:c.4198G>C	XP_011520941.1:p.Gly1400Arg
XM_011522640.2:c.4195G>C	XP_011520942.1:p.Gly1399Arg
XM_017023615.1:c.4270G>C	XP_016879104.1:p.Gly1424Arg
XM_017023616.1:c.4141G>C	XP_016879105.1:p.Gly1381Arg
XM_017023617.1:c.4237G>C	XP_016879106.1:p.Gly1413Arg
XM_017023618.1:c.2983G>C	XP_016879107.1:p.Gly995Arg
XM_024450413.1:c.4072G>C	XP_024306181.1:p.Gly1358Arg
NM_000548.5:c.4273G>C MANE Select	NP_000539.2:p.Gly1425Arg
NM_001370404.1:c.4141G>C	NP_001357333.1:p.Gly1381Arg
NM_001370405.1:c.4144G>C	NP_001357334.1:p.Gly1382Arg
NM_001077183.3:c.4072G>C	NP_001070651.1:p.Gly1358Arg
NM_001114382.3:c.4204G>C	NP_001107854.1:p.Gly1402Arg
NM_001318827.2:c.3964G>C	NP_001305756.1:p.Gly1322Arg
NM_001318829.2:c.3928G>C	NP_001305758.1:p.Gly1310Arg
NM_001318831.2:c.3541G>C	NP_001305760.1:p.Gly1181Arg
NM_001318832.2:c.4105G>C	NP_001305761.1:p.Gly1369Arg
NM_001363528.2:c.4075G>C	NP_001350457.1:p.Gly1359Arg
NM_021055.3:c.4144G>C	NP_066399.2:p.Gly1382Arg