Canonical Allele Identifier: CA394325437

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1424794
• ClinVar RCV Id: RCV001924040 ; RCV004010903
• dbSNP Id: rs397515297
• gnomAD v4: 16-2064275-G-C
• MyVariant Identifiers: chr16:g.2114276G>C (hg19) ; chr16:g.2064275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064275G>C , CM000678.2:g.2064275G>C	GRCh38
NC_000016.9:g.2114276G>C , CM000678.1:g.2114276G>C	GRCh37
NC_000016.8:g.2054277G>C	NCBI36
NG_005895.1:g.19970G>C , LRG_487:g.19970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.1365G>C	ENSP00000455997.2:p.Arg455Ser
ENST00000642206.2:c.1492G>C	ENSP00000495146.2:p.Glu498Gln
ENST00000642365.2:c.1447G>C	ENSP00000495459.2:p.Glu483Gln
ENST00000644417.2:c.*884G>C	ENSP00000493912.2:n.*884G>C
ENST00000646464.2:c.*1052G>C	ENSP00000496610.2:n.*1052G>C
ENST00000219476.9:c.1447G>C MANE Select	ENSP00000219476.3:p.Glu483Gln
ENST00000350773.9:c.1447G>C	ENSP00000344383.4:p.Glu483Gln
ENST00000401874.7:c.1447G>C	ENSP00000384468.2:p.Glu483Gln
ENST00000463601.2:n.1575G>C
ENST00000568454.6:c.1480G>C	ENSP00000454487.1:p.Glu494Gln
ENST00000642365.1:c.104G>C
ENST00000642561.1:c.1447G>C	ENSP00000495099.1:p.Glu483Gln
ENST00000642797.1:c.1447G>C	ENSP00000493846.1:p.Glu483Gln
ENST00000642812.1:n.1492G>C
ENST00000642936.1:c.1447G>C	ENSP00000494514.1:p.Glu483Gln
ENST00000643088.1:c.1447G>C	ENSP00000494747.1:p.Glu483Gln
ENST00000643149.1:n.3457G>C
ENST00000643298.1:c.*949G>C	ENSP00000494393.1:n.*949G>C
ENST00000643745.1:c.*379G>C	ENSP00000495948.1:n.*379G>C
ENST00000643946.1:c.1447G>C	ENSP00000495927.1:p.Glu483Gln
ENST00000644043.1:c.1447G>C	ENSP00000496262.1:p.Glu483Gln
ENST00000644135.1:c.1447G>C	ENSP00000495644.1:p.Glu483Gln
ENST00000644222.1:n.1534G>C
ENST00000644329.1:c.1447G>C	ENSP00000496611.1:p.Glu483Gln
ENST00000644335.1:c.1447G>C	ENSP00000496317.1:p.Glu483Gln
ENST00000644399.1:c.1440G>C
ENST00000644665.1:n.2621G>C
ENST00000644847.1:n.439G>C
ENST00000645591.1:n.2505G>C
ENST00000646388.1:c.1447G>C	ENSP00000495921.1:p.Glu483Gln
ENST00000646634.1:n.460G>C
ENST00000647234.1:n.3205G>C
ENST00000647242.1:n.2083G>C
ENST00000219476.7:c.1447G>C	ENSP00000219476.3:p.Glu483Gln
ENST00000350773.8:c.1447G>C	ENSP00000344383.4:p.Glu483Gln
ENST00000382538.10:c.1300G>C	ENSP00000371978.6:p.Glu434Gln
ENST00000401874.6:c.1447G>C	ENSP00000384468.2:p.Glu483Gln
ENST00000439117.6:c.*746G>C	ENSP00000406980.2:n.*746G>C
ENST00000439673.6:c.1336G>C	ENSP00000399232.2:p.Glu446Gln
ENST00000490108.1:n.220G>C
ENST00000568238.1:n.205G>C
ENST00000568454.5:c.1480G>C	ENSP00000454487.1:p.Glu494Gln
ENST00000568566.5:c.87G>C	ENSP00000455997.1:p.Arg29Ser
NM_000548.3:c.1447G>C , LRG_487t1:c.1447G>C	NP_000539.2:p.Glu483Gln
NM_001077183.1:c.1447G>C	NP_001070651.1:p.Glu483Gln
NM_001114382.1:c.1447G>C	NP_001107854.1:p.Glu483Gln
XM_005255529.3:c.1447G>C	XP_005255586.2:p.Glu483Gln
XM_005255531.3:c.1447G>C	XP_005255588.2:p.Glu483Gln
XM_011522636.1:c.1447G>C	XP_011520938.1:p.Glu483Gln
XM_011522637.1:c.1447G>C	XP_011520939.1:p.Glu483Gln
XM_011522638.1:c.1336G>C	XP_011520940.1:p.Glu446Gln
XM_011522639.1:c.1447G>C	XP_011520941.1:p.Glu483Gln
XM_011522640.1:c.1447G>C	XP_011520942.1:p.Glu483Gln
XM_011522641.1:c.1336G>C	XP_011520943.1:p.Glu446Gln
NM_000548.4:c.1447G>C	NP_000539.2:p.Glu483Gln
NM_001077183.2:c.1447G>C	NP_001070651.1:p.Glu483Gln
NM_001114382.2:c.1447G>C	NP_001107854.1:p.Glu483Gln
NM_001318827.1:c.1336G>C	NP_001305756.1:p.Glu446Gln
NM_001318829.1:c.1300G>C	NP_001305758.1:p.Glu434Gln
NM_001318831.1:c.847G>C	NP_001305760.1:p.Glu283Gln
NM_001318832.1:c.1480G>C	NP_001305761.1:p.Glu494Gln
NM_001363528.1:c.1447G>C	NP_001350457.1:p.Glu483Gln
NM_021055.2:c.1447G>C	NP_066399.2:p.Glu483Gln
XM_005255531.4:c.1447G>C	XP_005255588.2:p.Glu483Gln
XM_011522636.2:c.1447G>C	XP_011520938.1:p.Glu483Gln
XM_011522637.2:c.1447G>C	XP_011520939.1:p.Glu483Gln
XM_011522638.2:c.1609G>C	XP_011520940.2:p.Glu537Gln
XM_011522639.2:c.1447G>C	XP_011520941.1:p.Glu483Gln
XM_011522640.2:c.1447G>C	XP_011520942.1:p.Glu483Gln
XM_017023615.1:c.1447G>C	XP_016879104.1:p.Glu483Gln
XM_017023616.1:c.1447G>C	XP_016879105.1:p.Glu483Gln
XM_017023617.1:c.1609G>C	XP_016879106.1:p.Glu537Gln
XM_017023618.1:c.103G>C	XP_016879107.1:p.Glu35Gln
XM_024450413.1:c.1447G>C	XP_024306181.1:p.Glu483Gln
NM_000548.5:c.1447G>C MANE Select	NP_000539.2:p.Glu483Gln
NM_001370404.1:c.1447G>C	NP_001357333.1:p.Glu483Gln
NM_001370405.1:c.1447G>C	NP_001357334.1:p.Glu483Gln
NM_001077183.3:c.1447G>C	NP_001070651.1:p.Glu483Gln
NM_001114382.3:c.1447G>C	NP_001107854.1:p.Glu483Gln
NM_001318827.2:c.1336G>C	NP_001305756.1:p.Glu446Gln
NM_001318829.2:c.1300G>C	NP_001305758.1:p.Glu434Gln
NM_001318831.2:c.847G>C	NP_001305760.1:p.Glu283Gln
NM_001318832.2:c.1480G>C	NP_001305761.1:p.Glu494Gln
NM_001363528.2:c.1447G>C	NP_001350457.1:p.Glu483Gln
NM_021055.3:c.1447G>C	NP_066399.2:p.Glu483Gln