Canonical Allele Identifier: CA394301651

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134583A>C (hg19) ; chr16:g.2084582A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084582A>C , CM000678.2:g.2084582A>C	GRCh38
NC_000016.9:g.2134583A>C , CM000678.1:g.2134583A>C	GRCh37
NC_000016.8:g.2074584A>C	NCBI36
NG_005895.1:g.40277A>C , LRG_487:g.40277A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2709A>C	ENSP00000455997.2:n.*2709A>C
ENST00000642206.2:c.4207A>C	ENSP00000495146.2:p.Ser1403Arg
ENST00000642365.2:c.4357A>C	ENSP00000495459.2:p.Ser1453Arg
ENST00000644417.2:c.*4740A>C	ENSP00000493912.2:n.*4740A>C
ENST00000646464.2:c.*7109A>C	ENSP00000496610.2:n.*7109A>C
ENST00000219476.9:c.4360A>C MANE Select	ENSP00000219476.3:p.Ser1454Arg
ENST00000350773.9:c.4291A>C	ENSP00000344383.4:p.Ser1431Arg
ENST00000401874.7:c.4159A>C	ENSP00000384468.2:p.Ser1387Arg
ENST00000568454.6:c.4192A>C	ENSP00000454487.1:p.Ser1398Arg
ENST00000569110.2:c.596A>C
ENST00000569930.2:n.2242A>C
ENST00000642365.1:c.3014A>C
ENST00000642561.1:c.4231A>C	ENSP00000495099.1:p.Ser1411Arg
ENST00000642728.1:n.542A>C
ENST00000642797.1:c.4162A>C	ENSP00000493846.1:p.Ser1388Arg
ENST00000642936.1:c.4228A>C	ENSP00000494514.1:p.Ser1410Arg
ENST00000643088.1:c.4159A>C	ENSP00000494747.1:p.Ser1387Arg
ENST00000643177.1:n.374A>C
ENST00000643426.1:n.2008A>C
ENST00000643946.1:c.4291A>C	ENSP00000495927.1:p.Ser1431Arg
ENST00000644043.1:c.4231A>C	ENSP00000496262.1:p.Ser1411Arg
ENST00000644329.1:c.4159A>C	ENSP00000496611.1:p.Ser1387Arg
ENST00000644335.1:c.4162A>C	ENSP00000496317.1:p.Ser1388Arg
ENST00000644399.1:c.4281A>C
ENST00000645024.1:n.2444A>C
ENST00000646388.1:c.4360A>C	ENSP00000495921.1:p.Ser1454Arg
ENST00000646634.1:n.3175A>C
ENST00000646674.1:n.1612A>C
ENST00000647042.1:n.1583A>C
ENST00000647180.1:n.1473A>C
ENST00000219476.7:c.4360A>C	ENSP00000219476.3:p.Ser1454Arg
ENST00000350773.8:c.4291A>C	ENSP00000344383.4:p.Ser1431Arg
ENST00000382538.10:c.4015A>C	ENSP00000371978.6:p.Ser1339Arg
ENST00000401874.6:c.4159A>C	ENSP00000384468.2:p.Ser1387Arg
ENST00000439117.6:c.*3527A>C	ENSP00000406980.2:n.*3527A>C
ENST00000439673.6:c.4051A>C	ENSP00000399232.2:p.Ser1351Arg
ENST00000497886.5:n.2118A>C
ENST00000568454.5:c.4192A>C	ENSP00000454487.1:p.Ser1398Arg
ENST00000569110.1:c.542A>C
ENST00000569930.1:n.1475A>C
NM_000548.3:c.4360A>C , LRG_487t1:c.4360A>C	NP_000539.2:p.Ser1454Arg
NM_001077183.1:c.4159A>C	NP_001070651.1:p.Ser1387Arg
NM_001114382.1:c.4291A>C	NP_001107854.1:p.Ser1431Arg
XM_005255529.3:c.4231A>C	XP_005255586.2:p.Ser1411Arg
XM_005255531.3:c.4162A>C	XP_005255588.2:p.Ser1388Arg
XM_011522636.1:c.4414A>C	XP_011520938.1:p.Ser1472Arg
XM_011522637.1:c.4411A>C	XP_011520939.1:p.Ser1471Arg
XM_011522638.1:c.4303A>C	XP_011520940.1:p.Ser1435Arg
XM_011522639.1:c.4285A>C	XP_011520941.1:p.Ser1429Arg
XM_011522640.1:c.4282A>C	XP_011520942.1:p.Ser1428Arg
XM_011522641.1:c.4051A>C	XP_011520943.1:p.Ser1351Arg
NM_000548.4:c.4360A>C	NP_000539.2:p.Ser1454Arg
NM_001077183.2:c.4159A>C	NP_001070651.1:p.Ser1387Arg
NM_001114382.2:c.4291A>C	NP_001107854.1:p.Ser1431Arg
NM_001318827.1:c.4051A>C	NP_001305756.1:p.Ser1351Arg
NM_001318829.1:c.4015A>C	NP_001305758.1:p.Ser1339Arg
NM_001318831.1:c.3628A>C	NP_001305760.1:p.Ser1210Arg
NM_001318832.1:c.4192A>C	NP_001305761.1:p.Ser1398Arg
NM_001363528.1:c.4162A>C	NP_001350457.1:p.Ser1388Arg
NM_021055.2:c.4231A>C	NP_066399.2:p.Ser1411Arg
XM_005255531.4:c.4162A>C	XP_005255588.2:p.Ser1388Arg
XM_011522636.2:c.4414A>C	XP_011520938.1:p.Ser1472Arg
XM_011522637.2:c.4411A>C	XP_011520939.1:p.Ser1471Arg
XM_011522638.2:c.4576A>C	XP_011520940.2:p.Ser1526Arg
XM_011522639.2:c.4285A>C	XP_011520941.1:p.Ser1429Arg
XM_011522640.2:c.4282A>C	XP_011520942.1:p.Ser1428Arg
XM_017023615.1:c.4357A>C	XP_016879104.1:p.Ser1453Arg
XM_017023616.1:c.4228A>C	XP_016879105.1:p.Ser1410Arg
XM_017023617.1:c.4324A>C	XP_016879106.1:p.Ser1442Arg
XM_017023618.1:c.3070A>C	XP_016879107.1:p.Ser1024Arg
XM_024450413.1:c.4159A>C	XP_024306181.1:p.Ser1387Arg
NM_000548.5:c.4360A>C MANE Select	NP_000539.2:p.Ser1454Arg
NM_001370404.1:c.4228A>C	NP_001357333.1:p.Ser1410Arg
NM_001370405.1:c.4231A>C	NP_001357334.1:p.Ser1411Arg
NM_001077183.3:c.4159A>C	NP_001070651.1:p.Ser1387Arg
NM_001114382.3:c.4291A>C	NP_001107854.1:p.Ser1431Arg
NM_001318827.2:c.4051A>C	NP_001305756.1:p.Ser1351Arg
NM_001318829.2:c.4015A>C	NP_001305758.1:p.Ser1339Arg
NM_001318831.2:c.3628A>C	NP_001305760.1:p.Ser1210Arg
NM_001318832.2:c.4192A>C	NP_001305761.1:p.Ser1398Arg
NM_001363528.2:c.4162A>C	NP_001350457.1:p.Ser1388Arg
NM_021055.3:c.4231A>C	NP_066399.2:p.Ser1411Arg