Canonical Allele Identifier: CA394301360

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468080
• ClinVar RCV Id: RCV002330901 ; RCV003459242
• dbSNP Id: rs1204349917
• gnomAD v2: 16-2134548-A-T
• gnomAD v4: 16-2084547-A-T
• MyVariant Identifiers: chr16:g.2134548A>T (hg19) ; chr16:g.2084547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084547A>T , CM000678.2:g.2084547A>T	GRCh38
NC_000016.9:g.2134548A>T , CM000678.1:g.2134548A>T	GRCh37
NC_000016.8:g.2074549A>T	NCBI36
NG_005895.1:g.40242A>T , LRG_487:g.40242A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2674A>T	ENSP00000455997.2:n.*2674A>T
ENST00000642206.2:c.4172A>T	ENSP00000495146.2:p.Glu1391Val
ENST00000642365.2:c.4322A>T	ENSP00000495459.2:p.Glu1441Val
ENST00000644417.2:c.*4705A>T	ENSP00000493912.2:n.*4705A>T
ENST00000646464.2:c.*7074A>T	ENSP00000496610.2:n.*7074A>T
ENST00000219476.9:c.4325A>T MANE Select	ENSP00000219476.3:p.Glu1442Val
ENST00000350773.9:c.4256A>T	ENSP00000344383.4:p.Glu1419Val
ENST00000401874.7:c.4124A>T	ENSP00000384468.2:p.Glu1375Val
ENST00000568454.6:c.4157A>T	ENSP00000454487.1:p.Glu1386Val
ENST00000569110.2:c.561A>T
ENST00000569930.2:n.2207A>T
ENST00000642365.1:c.2979A>T
ENST00000642561.1:c.4196A>T	ENSP00000495099.1:p.Glu1399Val
ENST00000642728.1:n.507A>T
ENST00000642797.1:c.4127A>T	ENSP00000493846.1:p.Glu1376Val
ENST00000642936.1:c.4193A>T	ENSP00000494514.1:p.Glu1398Val
ENST00000643088.1:c.4124A>T	ENSP00000494747.1:p.Glu1375Val
ENST00000643177.1:n.339A>T
ENST00000643426.1:n.1973A>T
ENST00000643946.1:c.4256A>T	ENSP00000495927.1:p.Glu1419Val
ENST00000644043.1:c.4196A>T	ENSP00000496262.1:p.Glu1399Val
ENST00000644329.1:c.4124A>T	ENSP00000496611.1:p.Glu1375Val
ENST00000644335.1:c.4127A>T	ENSP00000496317.1:p.Glu1376Val
ENST00000644399.1:c.4246A>T
ENST00000645024.1:n.2409A>T
ENST00000646388.1:c.4325A>T	ENSP00000495921.1:p.Glu1442Val
ENST00000646634.1:n.3140A>T
ENST00000646674.1:n.1577A>T
ENST00000647042.1:n.1548A>T
ENST00000647180.1:n.1438A>T
ENST00000219476.7:c.4325A>T	ENSP00000219476.3:p.Glu1442Val
ENST00000350773.8:c.4256A>T	ENSP00000344383.4:p.Glu1419Val
ENST00000382538.10:c.3980A>T	ENSP00000371978.6:p.Glu1327Val
ENST00000401874.6:c.4124A>T	ENSP00000384468.2:p.Glu1375Val
ENST00000439117.6:c.*3492A>T	ENSP00000406980.2:n.*3492A>T
ENST00000439673.6:c.4016A>T	ENSP00000399232.2:p.Glu1339Val
ENST00000497886.5:n.2083A>T
ENST00000568454.5:c.4157A>T	ENSP00000454487.1:p.Glu1386Val
ENST00000569110.1:c.507A>T
ENST00000569930.1:n.1440A>T
NM_000548.3:c.4325A>T , LRG_487t1:c.4325A>T	NP_000539.2:p.Glu1442Val
NM_001077183.1:c.4124A>T	NP_001070651.1:p.Glu1375Val
NM_001114382.1:c.4256A>T	NP_001107854.1:p.Glu1419Val
XM_005255529.3:c.4196A>T	XP_005255586.2:p.Glu1399Val
XM_005255531.3:c.4127A>T	XP_005255588.2:p.Glu1376Val
XM_011522636.1:c.4379A>T	XP_011520938.1:p.Glu1460Val
XM_011522637.1:c.4376A>T	XP_011520939.1:p.Glu1459Val
XM_011522638.1:c.4268A>T	XP_011520940.1:p.Glu1423Val
XM_011522639.1:c.4250A>T	XP_011520941.1:p.Glu1417Val
XM_011522640.1:c.4247A>T	XP_011520942.1:p.Glu1416Val
XM_011522641.1:c.4016A>T	XP_011520943.1:p.Glu1339Val
NM_000548.4:c.4325A>T	NP_000539.2:p.Glu1442Val
NM_001077183.2:c.4124A>T	NP_001070651.1:p.Glu1375Val
NM_001114382.2:c.4256A>T	NP_001107854.1:p.Glu1419Val
NM_001318827.1:c.4016A>T	NP_001305756.1:p.Glu1339Val
NM_001318829.1:c.3980A>T	NP_001305758.1:p.Glu1327Val
NM_001318831.1:c.3593A>T	NP_001305760.1:p.Glu1198Val
NM_001318832.1:c.4157A>T	NP_001305761.1:p.Glu1386Val
NM_001363528.1:c.4127A>T	NP_001350457.1:p.Glu1376Val
NM_021055.2:c.4196A>T	NP_066399.2:p.Glu1399Val
XM_005255531.4:c.4127A>T	XP_005255588.2:p.Glu1376Val
XM_011522636.2:c.4379A>T	XP_011520938.1:p.Glu1460Val
XM_011522637.2:c.4376A>T	XP_011520939.1:p.Glu1459Val
XM_011522638.2:c.4541A>T	XP_011520940.2:p.Glu1514Val
XM_011522639.2:c.4250A>T	XP_011520941.1:p.Glu1417Val
XM_011522640.2:c.4247A>T	XP_011520942.1:p.Glu1416Val
XM_017023615.1:c.4322A>T	XP_016879104.1:p.Glu1441Val
XM_017023616.1:c.4193A>T	XP_016879105.1:p.Glu1398Val
XM_017023617.1:c.4289A>T	XP_016879106.1:p.Glu1430Val
XM_017023618.1:c.3035A>T	XP_016879107.1:p.Glu1012Val
XM_024450413.1:c.4124A>T	XP_024306181.1:p.Glu1375Val
NM_000548.5:c.4325A>T MANE Select	NP_000539.2:p.Glu1442Val
NM_001370404.1:c.4193A>T	NP_001357333.1:p.Glu1398Val
NM_001370405.1:c.4196A>T	NP_001357334.1:p.Glu1399Val
NM_001077183.3:c.4124A>T	NP_001070651.1:p.Glu1375Val
NM_001114382.3:c.4256A>T	NP_001107854.1:p.Glu1419Val
NM_001318827.2:c.4016A>T	NP_001305756.1:p.Glu1339Val
NM_001318829.2:c.3980A>T	NP_001305758.1:p.Glu1327Val
NM_001318831.2:c.3593A>T	NP_001305760.1:p.Glu1198Val
NM_001318832.2:c.4157A>T	NP_001305761.1:p.Glu1386Val
NM_001363528.2:c.4127A>T	NP_001350457.1:p.Glu1376Val
NM_021055.3:c.4196A>T	NP_066399.2:p.Glu1399Val