Canonical Allele Identifier: CA394299372

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468061
• ClinVar RCV Id: RCV000544952 ; RCV001584296 ; RCV000764030 ; RCV003999303 ; RCV004024051
• dbSNP Id: rs1555513911
• gnomAD v4: 16-2084285-A-G
• MyVariant Identifiers: chr16:g.2134286A>G (hg19) ; chr16:g.2084285A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084285A>G , CM000678.2:g.2084285A>G	GRCh38
NC_000016.9:g.2134286A>G , CM000678.1:g.2134286A>G	GRCh37
NC_000016.8:g.2074287A>G	NCBI36
NG_005895.1:g.39980A>G , LRG_487:g.39980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2412A>G	ENSP00000455997.2:n.*2412A>G
ENST00000642206.2:c.3910A>G	ENSP00000495146.2:p.Arg1304Gly
ENST00000642365.2:c.4060A>G	ENSP00000495459.2:p.Arg1354Gly
ENST00000644417.2:c.*4443A>G	ENSP00000493912.2:n.*4443A>G
ENST00000646464.2:c.*6812A>G	ENSP00000496610.2:n.*6812A>G
ENST00000219476.9:c.4063A>G MANE Select	ENSP00000219476.3:p.Arg1355Gly
ENST00000350773.9:c.3994A>G	ENSP00000344383.4:p.Arg1332Gly
ENST00000401874.7:c.3862A>G	ENSP00000384468.2:p.Arg1288Gly
ENST00000568454.6:c.3895A>G	ENSP00000454487.1:p.Arg1299Gly
ENST00000569110.2:c.299A>G
ENST00000569930.2:n.1945A>G
ENST00000642365.1:c.2717A>G
ENST00000642561.1:c.3934A>G	ENSP00000495099.1:p.Arg1312Gly
ENST00000642728.1:n.245A>G
ENST00000642797.1:c.3865A>G	ENSP00000493846.1:p.Arg1289Gly
ENST00000642936.1:c.3931A>G	ENSP00000494514.1:p.Arg1311Gly
ENST00000643088.1:c.3862A>G	ENSP00000494747.1:p.Arg1288Gly
ENST00000643177.1:n.77A>G
ENST00000643426.1:n.1711A>G
ENST00000643533.1:n.504A>G
ENST00000643946.1:c.3994A>G	ENSP00000495927.1:p.Arg1332Gly
ENST00000644043.1:c.3934A>G	ENSP00000496262.1:p.Arg1312Gly
ENST00000644329.1:c.3862A>G	ENSP00000496611.1:p.Arg1288Gly
ENST00000644335.1:c.3865A>G	ENSP00000496317.1:p.Arg1289Gly
ENST00000644399.1:c.3984A>G
ENST00000645024.1:n.2147A>G
ENST00000645186.1:c.306A>G
ENST00000646388.1:c.4063A>G	ENSP00000495921.1:p.Arg1355Gly
ENST00000646634.1:n.2878A>G
ENST00000646674.1:n.1315A>G
ENST00000647042.1:n.1286A>G
ENST00000647180.1:n.1176A>G
ENST00000219476.7:c.4063A>G	ENSP00000219476.3:p.Arg1355Gly
ENST00000350773.8:c.3994A>G	ENSP00000344383.4:p.Arg1332Gly
ENST00000382538.10:c.3718A>G	ENSP00000371978.6:p.Arg1240Gly
ENST00000401874.6:c.3862A>G	ENSP00000384468.2:p.Arg1288Gly
ENST00000439117.6:c.*3230A>G	ENSP00000406980.2:n.*3230A>G
ENST00000439673.6:c.3754A>G	ENSP00000399232.2:p.Arg1252Gly
ENST00000497886.5:n.1821A>G
ENST00000568454.5:c.3895A>G	ENSP00000454487.1:p.Arg1299Gly
ENST00000569110.1:c.245A>G
ENST00000569930.1:n.1178A>G
NM_000548.3:c.4063A>G , LRG_487t1:c.4063A>G	NP_000539.2:p.Arg1355Gly
NM_001077183.1:c.3862A>G	NP_001070651.1:p.Arg1288Gly
NM_001114382.1:c.3994A>G	NP_001107854.1:p.Arg1332Gly
XM_005255529.3:c.3934A>G	XP_005255586.2:p.Arg1312Gly
XM_005255531.3:c.3865A>G	XP_005255588.2:p.Arg1289Gly
XM_011522636.1:c.4117A>G	XP_011520938.1:p.Arg1373Gly
XM_011522637.1:c.4114A>G	XP_011520939.1:p.Arg1372Gly
XM_011522638.1:c.4006A>G	XP_011520940.1:p.Arg1336Gly
XM_011522639.1:c.3988A>G	XP_011520941.1:p.Arg1330Gly
XM_011522640.1:c.3985A>G	XP_011520942.1:p.Arg1329Gly
XM_011522641.1:c.3754A>G	XP_011520943.1:p.Arg1252Gly
NM_000548.4:c.4063A>G	NP_000539.2:p.Arg1355Gly
NM_001077183.2:c.3862A>G	NP_001070651.1:p.Arg1288Gly
NM_001114382.2:c.3994A>G	NP_001107854.1:p.Arg1332Gly
NM_001318827.1:c.3754A>G	NP_001305756.1:p.Arg1252Gly
NM_001318829.1:c.3718A>G	NP_001305758.1:p.Arg1240Gly
NM_001318831.1:c.3331A>G	NP_001305760.1:p.Arg1111Gly
NM_001318832.1:c.3895A>G	NP_001305761.1:p.Arg1299Gly
NM_001363528.1:c.3865A>G	NP_001350457.1:p.Arg1289Gly
NM_021055.2:c.3934A>G	NP_066399.2:p.Arg1312Gly
XM_005255531.4:c.3865A>G	XP_005255588.2:p.Arg1289Gly
XM_011522636.2:c.4117A>G	XP_011520938.1:p.Arg1373Gly
XM_011522637.2:c.4114A>G	XP_011520939.1:p.Arg1372Gly
XM_011522638.2:c.4279A>G	XP_011520940.2:p.Arg1427Gly
XM_011522639.2:c.3988A>G	XP_011520941.1:p.Arg1330Gly
XM_011522640.2:c.3985A>G	XP_011520942.1:p.Arg1329Gly
XM_017023615.1:c.4060A>G	XP_016879104.1:p.Arg1354Gly
XM_017023616.1:c.3931A>G	XP_016879105.1:p.Arg1311Gly
XM_017023617.1:c.4027A>G	XP_016879106.1:p.Arg1343Gly
XM_017023618.1:c.2773A>G	XP_016879107.1:p.Arg925Gly
XM_024450413.1:c.3862A>G	XP_024306181.1:p.Arg1288Gly
NM_000548.5:c.4063A>G MANE Select	NP_000539.2:p.Arg1355Gly
NM_001370404.1:c.3931A>G	NP_001357333.1:p.Arg1311Gly
NM_001370405.1:c.3934A>G	NP_001357334.1:p.Arg1312Gly
NM_001077183.3:c.3862A>G	NP_001070651.1:p.Arg1288Gly
NM_001114382.3:c.3994A>G	NP_001107854.1:p.Arg1332Gly
NM_001318827.2:c.3754A>G	NP_001305756.1:p.Arg1252Gly
NM_001318829.2:c.3718A>G	NP_001305758.1:p.Arg1240Gly
NM_001318831.2:c.3331A>G	NP_001305760.1:p.Arg1111Gly
NM_001318832.2:c.3895A>G	NP_001305761.1:p.Arg1299Gly
NM_001363528.2:c.3865A>G	NP_001350457.1:p.Arg1289Gly
NM_021055.3:c.3934A>G	NP_066399.2:p.Arg1312Gly