Canonical Allele Identifier: CA015914

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49643
• ClinVar RCV Id: RCV000042905 ; RCV000189989 ; RCV000539587 ; RCV000768117 ; RCV000491813
• dbSNP Id: rs45469298
• COSMIC: COSM5760479 ; COSM5760480
• MyVariant Identifiers: chr16:g.2120571C>T (hg19) ; chr16:g.2070570C>T (hg38)
• PubMed: PMID:8824881 ; PMID:10735580 ; PMID:11741832 ; PMID:12111193 ; PMID:15483652 ; PMID:15595939 ; PMID:22867869

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2070570C>T , CM000678.2:g.2070570C>T	GRCh38
NC_000016.9:g.2120571C>T , CM000678.1:g.2120571C>T	GRCh37
NC_000016.8:g.2060572C>T	NCBI36
NG_005895.1:g.26265C>T , LRG_487:g.26265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*378C>T	ENSP00000455997.2:n.*378C>T
ENST00000642206.2:c.1876C>T	ENSP00000495146.2:p.Arg626Trp
ENST00000642365.2:c.1831C>T	ENSP00000495459.2:p.Arg611Trp
ENST00000644417.2:c.*1268C>T	ENSP00000493912.2:n.*1268C>T
ENST00000646464.2:c.*1436C>T	ENSP00000496610.2:n.*1436C>T
ENST00000219476.9:c.1831C>T MANE Select	ENSP00000219476.3:p.Arg611Trp
ENST00000350773.9:c.1831C>T	ENSP00000344383.4:p.Arg611Trp
ENST00000401874.7:c.1831C>T	ENSP00000384468.2:p.Arg611Trp
ENST00000568454.6:c.1864C>T	ENSP00000454487.1:p.Arg622Trp
ENST00000642365.1:c.488C>T
ENST00000642561.1:c.1831C>T	ENSP00000495099.1:p.Arg611Trp
ENST00000642797.1:c.1831C>T	ENSP00000493846.1:p.Arg611Trp
ENST00000642936.1:c.1831C>T	ENSP00000494514.1:p.Arg611Trp
ENST00000643088.1:c.1831C>T	ENSP00000494747.1:p.Arg611Trp
ENST00000643298.1:c.*1333C>T	ENSP00000494393.1:n.*1333C>T
ENST00000643946.1:c.1831C>T	ENSP00000495927.1:p.Arg611Trp
ENST00000644043.1:c.1831C>T	ENSP00000496262.1:p.Arg611Trp
ENST00000644135.1:c.*331C>T	ENSP00000495644.1:n.*331C>T
ENST00000644329.1:c.1831C>T	ENSP00000496611.1:p.Arg611Trp
ENST00000644335.1:c.1831C>T	ENSP00000496317.1:p.Arg611Trp
ENST00000644399.1:c.1824C>T
ENST00000644847.1:n.823C>T
ENST00000645552.1:n.111C>T
ENST00000646388.1:c.1831C>T	ENSP00000495921.1:p.Arg611Trp
ENST00000646634.1:n.844C>T
ENST00000219476.7:c.1831C>T	ENSP00000219476.3:p.Arg611Trp
ENST00000350773.8:c.1831C>T	ENSP00000344383.4:p.Arg611Trp
ENST00000382538.10:c.1684C>T	ENSP00000371978.6:p.Arg562Trp
ENST00000401874.6:c.1831C>T	ENSP00000384468.2:p.Arg611Trp
ENST00000439117.6:c.*1130C>T	ENSP00000406980.2:n.*1130C>T
ENST00000439673.6:c.1720C>T	ENSP00000399232.2:p.Arg574Trp
ENST00000488675.5:n.338C>T
ENST00000562474.1:n.556C>T
ENST00000568454.5:c.1864C>T	ENSP00000454487.1:p.Arg622Trp
ENST00000568566.5:c.471C>T	ENSP00000455997.1:n.471C>T
NM_000548.3:c.1831C>T , LRG_487t1:c.1831C>T	NP_000539.2:p.Arg611Trp
NM_001077183.1:c.1831C>T	NP_001070651.1:p.Arg611Trp
NM_001114382.1:c.1831C>T	NP_001107854.1:p.Arg611Trp
XM_005255529.3:c.1831C>T	XP_005255586.2:p.Arg611Trp
XM_005255531.3:c.1831C>T	XP_005255588.2:p.Arg611Trp
XM_011522636.1:c.1831C>T	XP_011520938.1:p.Arg611Trp
XM_011522637.1:c.1831C>T	XP_011520939.1:p.Arg611Trp
XM_011522638.1:c.1720C>T	XP_011520940.1:p.Arg574Trp
XM_011522639.1:c.1831C>T	XP_011520941.1:p.Arg611Trp
XM_011522640.1:c.1831C>T	XP_011520942.1:p.Arg611Trp
XM_011522641.1:c.1720C>T	XP_011520943.1:p.Arg574Trp
NM_000548.4:c.1831C>T	NP_000539.2:p.Arg611Trp
NM_001077183.2:c.1831C>T	NP_001070651.1:p.Arg611Trp
NM_001114382.2:c.1831C>T	NP_001107854.1:p.Arg611Trp
NM_001318827.1:c.1720C>T	NP_001305756.1:p.Arg574Trp
NM_001318829.1:c.1684C>T	NP_001305758.1:p.Arg562Trp
NM_001318831.1:c.1231C>T	NP_001305760.1:p.Arg411Trp
NM_001318832.1:c.1864C>T	NP_001305761.1:p.Arg622Trp
NM_001363528.1:c.1831C>T	NP_001350457.1:p.Arg611Trp
NM_021055.2:c.1831C>T	NP_066399.2:p.Arg611Trp
XM_005255531.4:c.1831C>T	XP_005255588.2:p.Arg611Trp
XM_011522636.2:c.1831C>T	XP_011520938.1:p.Arg611Trp
XM_011522637.2:c.1831C>T	XP_011520939.1:p.Arg611Trp
XM_011522638.2:c.1993C>T	XP_011520940.2:p.Arg665Trp
XM_011522639.2:c.1831C>T	XP_011520941.1:p.Arg611Trp
XM_011522640.2:c.1831C>T	XP_011520942.1:p.Arg611Trp
XM_017023615.1:c.1831C>T	XP_016879104.1:p.Arg611Trp
XM_017023616.1:c.1831C>T	XP_016879105.1:p.Arg611Trp
XM_017023617.1:c.1993C>T	XP_016879106.1:p.Arg665Trp
XM_017023618.1:c.487C>T	XP_016879107.1:p.Arg163Trp
XM_024450413.1:c.1831C>T	XP_024306181.1:p.Arg611Trp
NM_000548.5:c.1831C>T MANE Select	NP_000539.2:p.Arg611Trp
NM_001370404.1:c.1831C>T	NP_001357333.1:p.Arg611Trp
NM_001370405.1:c.1831C>T	NP_001357334.1:p.Arg611Trp
NM_001077183.3:c.1831C>T	NP_001070651.1:p.Arg611Trp
NM_001114382.3:c.1831C>T	NP_001107854.1:p.Arg611Trp
NM_001318827.2:c.1720C>T	NP_001305756.1:p.Arg574Trp
NM_001318829.2:c.1684C>T	NP_001305758.1:p.Arg562Trp
NM_001318831.2:c.1231C>T	NP_001305760.1:p.Arg411Trp
NM_001318832.2:c.1864C>T	NP_001305761.1:p.Arg622Trp
NM_001363528.2:c.1831C>T	NP_001350457.1:p.Arg611Trp
NM_021055.3:c.1831C>T	NP_066399.2:p.Arg611Trp