Canonical Allele Identifier: CA020573

Gene: TSC2

Linked Data

• ClinVar Variation Id: 12401
• ClinVar RCV Id: RCV000013210 ; RCV000043266 ; RCV000492813 ; RCV002316192 ; RCV003460465
• dbSNP Id: rs45516293
• MyVariant Identifiers: chr16:g.2134966A>C (hg19) ; chr16:g.2084965A>C (hg38)
• PubMed: PMID:11403047 ; PMID:17120248 ; PMID:20301399 ; PMID:23389244

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084965A>C , CM000678.2:g.2084965A>C	GRCh38
NC_000016.9:g.2134966A>C , CM000678.1:g.2134966A>C	GRCh37
NC_000016.8:g.2074967A>C	NCBI36
NG_005895.1:g.40660A>C , LRG_487:g.40660A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2857A>C	ENSP00000455997.2:n.*2857A>C
ENST00000642206.2:c.4355A>C	ENSP00000495146.2:p.Gln1452Pro
ENST00000642365.2:c.4505A>C	ENSP00000495459.2:p.Gln1502Pro
ENST00000644417.2:c.*4888A>C	ENSP00000493912.2:n.*4888A>C
ENST00000646464.2:c.*7257A>C	ENSP00000496610.2:n.*7257A>C
ENST00000219476.9:c.4508A>C MANE Select	ENSP00000219476.3:p.Gln1503Pro
ENST00000350773.9:c.4439A>C	ENSP00000344383.4:p.Gln1480Pro
ENST00000401874.7:c.4307A>C	ENSP00000384468.2:p.Gln1436Pro
ENST00000568454.6:c.4340A>C	ENSP00000454487.1:p.Gln1447Pro
ENST00000569110.2:c.731A>C
ENST00000569930.2:n.2390A>C
ENST00000642365.1:c.3162A>C
ENST00000642561.1:c.4379A>C	ENSP00000495099.1:p.Gln1460Pro
ENST00000642728.1:n.690A>C
ENST00000642797.1:c.4310A>C	ENSP00000493846.1:p.Gln1437Pro
ENST00000642936.1:c.4376A>C	ENSP00000494514.1:p.Gln1459Pro
ENST00000643088.1:c.4307A>C	ENSP00000494747.1:p.Gln1436Pro
ENST00000643177.1:n.522A>C
ENST00000643426.1:n.2156A>C
ENST00000643946.1:c.4439A>C	ENSP00000495927.1:p.Gln1480Pro
ENST00000644043.1:c.4379A>C	ENSP00000496262.1:p.Gln1460Pro
ENST00000644329.1:c.4307A>C	ENSP00000496611.1:p.Gln1436Pro
ENST00000644335.1:c.4310A>C	ENSP00000496317.1:p.Gln1437Pro
ENST00000644399.1:c.4429A>C
ENST00000645024.1:n.2592A>C
ENST00000646388.1:c.4508A>C	ENSP00000495921.1:p.Gln1503Pro
ENST00000646634.1:n.3323A>C
ENST00000646674.1:n.1760A>C
ENST00000647042.1:n.1731A>C
ENST00000647180.1:n.1621A>C
ENST00000219476.7:c.4508A>C	ENSP00000219476.3:p.Gln1503Pro
ENST00000350773.8:c.4439A>C	ENSP00000344383.4:p.Gln1480Pro
ENST00000382538.10:c.4163A>C	ENSP00000371978.6:p.Gln1388Pro
ENST00000401874.6:c.4307A>C	ENSP00000384468.2:p.Gln1436Pro
ENST00000439117.6:c.*3675A>C	ENSP00000406980.2:n.*3675A>C
ENST00000439673.6:c.4199A>C	ENSP00000399232.2:p.Gln1400Pro
ENST00000497886.5:n.2266A>C
ENST00000568454.5:c.4340A>C	ENSP00000454487.1:p.Gln1447Pro
ENST00000569110.1:c.690A>C
ENST00000569930.1:n.1623A>C
NM_000548.3:c.4508A>C , LRG_487t1:c.4508A>C	NP_000539.2:p.Gln1503Pro
NM_001077183.1:c.4307A>C	NP_001070651.1:p.Gln1436Pro
NM_001114382.1:c.4439A>C	NP_001107854.1:p.Gln1480Pro
XM_005255529.3:c.4379A>C	XP_005255586.2:p.Gln1460Pro
XM_005255531.3:c.4310A>C	XP_005255588.2:p.Gln1437Pro
XM_011522636.1:c.4562A>C	XP_011520938.1:p.Gln1521Pro
XM_011522637.1:c.4559A>C	XP_011520939.1:p.Gln1520Pro
XM_011522638.1:c.4451A>C	XP_011520940.1:p.Gln1484Pro
XM_011522639.1:c.4433A>C	XP_011520941.1:p.Gln1478Pro
XM_011522640.1:c.4430A>C	XP_011520942.1:p.Gln1477Pro
XM_011522641.1:c.4199A>C	XP_011520943.1:p.Gln1400Pro
NM_000548.4:c.4508A>C	NP_000539.2:p.Gln1503Pro
NM_001077183.2:c.4307A>C	NP_001070651.1:p.Gln1436Pro
NM_001114382.2:c.4439A>C	NP_001107854.1:p.Gln1480Pro
NM_001318827.1:c.4199A>C	NP_001305756.1:p.Gln1400Pro
NM_001318829.1:c.4163A>C	NP_001305758.1:p.Gln1388Pro
NM_001318831.1:c.3776A>C	NP_001305760.1:p.Gln1259Pro
NM_001318832.1:c.4340A>C	NP_001305761.1:p.Gln1447Pro
NM_001363528.1:c.4310A>C	NP_001350457.1:p.Gln1437Pro
NM_021055.2:c.4379A>C	NP_066399.2:p.Gln1460Pro
XM_005255531.4:c.4310A>C	XP_005255588.2:p.Gln1437Pro
XM_011522636.2:c.4562A>C	XP_011520938.1:p.Gln1521Pro
XM_011522637.2:c.4559A>C	XP_011520939.1:p.Gln1520Pro
XM_011522638.2:c.4724A>C	XP_011520940.2:p.Gln1575Pro
XM_011522639.2:c.4433A>C	XP_011520941.1:p.Gln1478Pro
XM_011522640.2:c.4430A>C	XP_011520942.1:p.Gln1477Pro
XM_017023615.1:c.4505A>C	XP_016879104.1:p.Gln1502Pro
XM_017023616.1:c.4376A>C	XP_016879105.1:p.Gln1459Pro
XM_017023617.1:c.4472A>C	XP_016879106.1:p.Gln1491Pro
XM_017023618.1:c.3218A>C	XP_016879107.1:p.Gln1073Pro
XM_024450413.1:c.4307A>C	XP_024306181.1:p.Gln1436Pro
NM_000548.5:c.4508A>C MANE Select	NP_000539.2:p.Gln1503Pro
NM_001370404.1:c.4376A>C	NP_001357333.1:p.Gln1459Pro
NM_001370405.1:c.4379A>C	NP_001357334.1:p.Gln1460Pro
NM_001077183.3:c.4307A>C	NP_001070651.1:p.Gln1436Pro
NM_001114382.3:c.4439A>C	NP_001107854.1:p.Gln1480Pro
NM_001318827.2:c.4199A>C	NP_001305756.1:p.Gln1400Pro
NM_001318829.2:c.4163A>C	NP_001305758.1:p.Gln1388Pro
NM_001318831.2:c.3776A>C	NP_001305760.1:p.Gln1259Pro
NM_001318832.2:c.4340A>C	NP_001305761.1:p.Gln1447Pro
NM_001363528.2:c.4310A>C	NP_001350457.1:p.Gln1437Pro
NM_021055.3:c.4379A>C	NP_066399.2:p.Gln1460Pro