Canonical Allele Identifier: CA394285992

Gene: TSC2

Linked Data

• ClinVar Variation Id: 3232136
• ClinVar RCV Id: RCV004520819
• dbSNP Id: rs747910305
• MyVariant Identifiers: chr16:g.2129371G>C (hg19) ; chr16:g.2079370G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079370G>C , CM000678.2:g.2079370G>C	GRCh38
NC_000016.9:g.2129371G>C , CM000678.1:g.2129371G>C	GRCh37
NC_000016.8:g.2069372G>C	NCBI36
NG_005895.1:g.35065G>C , LRG_487:g.35065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1644G>C	ENSP00000455997.2:n.*1644G>C
ENST00000642206.2:c.3142G>C	ENSP00000495146.2:p.Gly1048Arg
ENST00000642365.2:c.3223G>C	ENSP00000495459.2:p.Gly1075Arg
ENST00000644417.2:c.*3675G>C	ENSP00000493912.2:n.*3675G>C
ENST00000646464.2:c.*4148G>C	ENSP00000496610.2:n.*4148G>C
ENST00000219476.9:c.3226G>C MANE Select	ENSP00000219476.3:p.Gly1076Arg
ENST00000350773.9:c.3226G>C	ENSP00000344383.4:p.Gly1076Arg
ENST00000401874.7:c.3094G>C	ENSP00000384468.2:p.Gly1032Arg
ENST00000471143.6:c.454G>C	ENSP00000458541.2:n.454G>C
ENST00000568454.6:c.3127G>C	ENSP00000454487.1:p.Gly1043Arg
ENST00000642365.1:c.1880G>C
ENST00000642561.1:c.3097G>C	ENSP00000495099.1:p.Gly1033Arg
ENST00000642797.1:c.3097G>C	ENSP00000493846.1:p.Gly1033Arg
ENST00000642936.1:c.3094G>C	ENSP00000494514.1:p.Gly1032Arg
ENST00000643088.1:c.3094G>C	ENSP00000494747.1:p.Gly1032Arg
ENST00000643946.1:c.3226G>C	ENSP00000495927.1:p.Gly1076Arg
ENST00000644043.1:c.3097G>C	ENSP00000496262.1:p.Gly1033Arg
ENST00000644329.1:c.3094G>C	ENSP00000496611.1:p.Gly1032Arg
ENST00000644335.1:c.3097G>C	ENSP00000496317.1:p.Gly1033Arg
ENST00000644399.1:c.3216G>C
ENST00000644722.1:n.372G>C
ENST00000645024.1:n.1379G>C
ENST00000646388.1:c.3226G>C	ENSP00000495921.1:p.Gly1076Arg
ENST00000646634.1:n.2110G>C
ENST00000647042.1:n.518G>C
ENST00000219476.7:c.3226G>C	ENSP00000219476.3:p.Gly1076Arg
ENST00000350773.8:c.3226G>C	ENSP00000344383.4:p.Gly1076Arg
ENST00000382538.10:c.2950G>C	ENSP00000371978.6:p.Gly984Arg
ENST00000401874.6:c.3094G>C	ENSP00000384468.2:p.Gly1032Arg
ENST00000439117.6:c.*2393G>C	ENSP00000406980.2:n.*2393G>C
ENST00000439673.6:c.2986G>C	ENSP00000399232.2:p.Gly996Arg
ENST00000471143.5:c.452G>C
ENST00000483020.5:c.466G>C	ENSP00000460310.1:n.466G>C
ENST00000497886.5:n.1053G>C
ENST00000561695.1:n.451G>C
ENST00000568366.5:n.583G>C
ENST00000568454.5:c.3127G>C	ENSP00000454487.1:p.Gly1043Arg
NM_000548.3:c.3226G>C , LRG_487t1:c.3226G>C	NP_000539.2:p.Gly1076Arg
NM_001077183.1:c.3094G>C	NP_001070651.1:p.Gly1032Arg
NM_001114382.1:c.3226G>C	NP_001107854.1:p.Gly1076Arg
XM_005255529.3:c.3097G>C	XP_005255586.2:p.Gly1033Arg
XM_005255531.3:c.3097G>C	XP_005255588.2:p.Gly1033Arg
XM_011522636.1:c.3226G>C	XP_011520938.1:p.Gly1076Arg
XM_011522637.1:c.3223G>C	XP_011520939.1:p.Gly1075Arg
XM_011522638.1:c.3115G>C	XP_011520940.1:p.Gly1039Arg
XM_011522639.1:c.3097G>C	XP_011520941.1:p.Gly1033Arg
XM_011522640.1:c.3094G>C	XP_011520942.1:p.Gly1032Arg
XM_011522641.1:c.2986G>C	XP_011520943.1:p.Gly996Arg
NM_000548.4:c.3226G>C	NP_000539.2:p.Gly1076Arg
NM_001077183.2:c.3094G>C	NP_001070651.1:p.Gly1032Arg
NM_001114382.2:c.3226G>C	NP_001107854.1:p.Gly1076Arg
NM_001318827.1:c.2986G>C	NP_001305756.1:p.Gly996Arg
NM_001318829.1:c.2950G>C	NP_001305758.1:p.Gly984Arg
NM_001318831.1:c.2494G>C	NP_001305760.1:p.Gly832Arg
NM_001318832.1:c.3127G>C	NP_001305761.1:p.Gly1043Arg
NM_001363528.1:c.3097G>C	NP_001350457.1:p.Gly1033Arg
NM_021055.2:c.3097G>C	NP_066399.2:p.Gly1033Arg
XM_005255531.4:c.3097G>C	XP_005255588.2:p.Gly1033Arg
XM_011522636.2:c.3226G>C	XP_011520938.1:p.Gly1076Arg
XM_011522637.2:c.3223G>C	XP_011520939.1:p.Gly1075Arg
XM_011522638.2:c.3388G>C	XP_011520940.2:p.Gly1130Arg
XM_011522639.2:c.3097G>C	XP_011520941.1:p.Gly1033Arg
XM_011522640.2:c.3094G>C	XP_011520942.1:p.Gly1032Arg
XM_017023615.1:c.3223G>C	XP_016879104.1:p.Gly1075Arg
XM_017023616.1:c.3094G>C	XP_016879105.1:p.Gly1032Arg
XM_017023617.1:c.3259G>C	XP_016879106.1:p.Gly1087Arg
XM_017023618.1:c.1882G>C	XP_016879107.1:p.Gly628Arg
XM_024450413.1:c.3094G>C	XP_024306181.1:p.Gly1032Arg
NM_000548.5:c.3226G>C MANE Select	NP_000539.2:p.Gly1076Arg
NM_001370404.1:c.3094G>C	NP_001357333.1:p.Gly1032Arg
NM_001370405.1:c.3097G>C	NP_001357334.1:p.Gly1033Arg
NM_001077183.3:c.3094G>C	NP_001070651.1:p.Gly1032Arg
NM_001114382.3:c.3226G>C	NP_001107854.1:p.Gly1076Arg
NM_001318827.2:c.2986G>C	NP_001305756.1:p.Gly996Arg
NM_001318829.2:c.2950G>C	NP_001305758.1:p.Gly984Arg
NM_001318831.2:c.2494G>C	NP_001305760.1:p.Gly832Arg
NM_001318832.2:c.3127G>C	NP_001305761.1:p.Gly1043Arg
NM_001363528.2:c.3097G>C	NP_001350457.1:p.Gly1033Arg
NM_021055.3:c.3097G>C	NP_066399.2:p.Gly1033Arg