Canonical Allele Identifier: CA017090

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50131
• ClinVar RCV Id: RCV000043398 ; RCV000201032 ; RCV000519394 ; RCV000763365 ; RCV002444499
• dbSNP Id: rs45517222
• MyVariant Identifiers: chr16:g.2122880C>T (hg19) ; chr16:g.2072879C>T (hg38)
• PubMed: PMID:10205261 ; PMID:10735580 ; PMID:22552000

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2072879C>T , CM000678.2:g.2072879C>T	GRCh38
NC_000016.9:g.2122880C>T , CM000678.1:g.2122880C>T	GRCh37
NC_000016.8:g.2062881C>T	NCBI36
NG_005895.1:g.28574C>T , LRG_487:g.28574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*798C>T	ENSP00000455997.2:n.*798C>T
ENST00000642206.2:c.2296C>T	ENSP00000495146.2:p.Arg766Ter
ENST00000642365.2:c.2251C>T	ENSP00000495459.2:p.Arg751Ter
ENST00000644417.2:c.*1688C>T	ENSP00000493912.2:n.*1688C>T
ENST00000646464.2:c.*1896C>T	ENSP00000496610.2:n.*1896C>T
ENST00000219476.9:c.2251C>T MANE Select	ENSP00000219476.3:p.Arg751Ter
ENST00000350773.9:c.2251C>T	ENSP00000344383.4:p.Arg751Ter
ENST00000401874.7:c.2251C>T	ENSP00000384468.2:p.Arg751Ter
ENST00000563346.2:n.429C>T
ENST00000568454.6:c.2284C>T	ENSP00000454487.1:p.Arg762Ter
ENST00000642365.1:c.908C>T
ENST00000642561.1:c.2251C>T	ENSP00000495099.1:p.Arg751Ter
ENST00000642797.1:c.2251C>T	ENSP00000493846.1:p.Arg751Ter
ENST00000642936.1:c.2251C>T	ENSP00000494514.1:p.Arg751Ter
ENST00000643088.1:c.2251C>T	ENSP00000494747.1:p.Arg751Ter
ENST00000643298.1:c.*1753C>T	ENSP00000494393.1:n.*1753C>T
ENST00000643946.1:c.2251C>T	ENSP00000495927.1:p.Arg751Ter
ENST00000644043.1:c.2251C>T	ENSP00000496262.1:p.Arg751Ter
ENST00000644329.1:c.2251C>T	ENSP00000496611.1:p.Arg751Ter
ENST00000644335.1:c.2251C>T	ENSP00000496317.1:p.Arg751Ter
ENST00000644399.1:c.2244C>T
ENST00000644847.1:n.1243C>T
ENST00000645024.1:n.533C>T
ENST00000645552.1:n.531C>T
ENST00000646388.1:c.2251C>T	ENSP00000495921.1:p.Arg751Ter
ENST00000646464.1:c.344C>T	ENSP00000496610.1:n.344C>T
ENST00000646634.1:n.1264C>T
ENST00000219476.7:c.2251C>T	ENSP00000219476.3:p.Arg751Ter
ENST00000350773.8:c.2251C>T	ENSP00000344383.4:p.Arg751Ter
ENST00000382538.10:c.2104C>T	ENSP00000371978.6:p.Arg702Ter
ENST00000401874.6:c.2251C>T	ENSP00000384468.2:p.Arg751Ter
ENST00000439117.6:c.*1550C>T	ENSP00000406980.2:n.*1550C>T
ENST00000439673.6:c.2140C>T	ENSP00000399232.2:p.Arg714Ter
ENST00000463808.1:n.285C>T
ENST00000563346.1:n.320C>T
ENST00000568454.5:c.2284C>T	ENSP00000454487.1:p.Arg762Ter
NM_000548.3:c.2251C>T , LRG_487t1:c.2251C>T	NP_000539.2:p.Arg751Ter
NM_001077183.1:c.2251C>T	NP_001070651.1:p.Arg751Ter
NM_001114382.1:c.2251C>T	NP_001107854.1:p.Arg751Ter
XM_005255529.3:c.2251C>T	XP_005255586.2:p.Arg751Ter
XM_005255531.3:c.2251C>T	XP_005255588.2:p.Arg751Ter
XM_011522636.1:c.2251C>T	XP_011520938.1:p.Arg751Ter
XM_011522637.1:c.2251C>T	XP_011520939.1:p.Arg751Ter
XM_011522638.1:c.2140C>T	XP_011520940.1:p.Arg714Ter
XM_011522639.1:c.2251C>T	XP_011520941.1:p.Arg751Ter
XM_011522640.1:c.2251C>T	XP_011520942.1:p.Arg751Ter
XM_011522641.1:c.2140C>T	XP_011520943.1:p.Arg714Ter
NM_000548.4:c.2251C>T	NP_000539.2:p.Arg751Ter
NM_001077183.2:c.2251C>T	NP_001070651.1:p.Arg751Ter
NM_001114382.2:c.2251C>T	NP_001107854.1:p.Arg751Ter
NM_001318827.1:c.2140C>T	NP_001305756.1:p.Arg714Ter
NM_001318829.1:c.2104C>T	NP_001305758.1:p.Arg702Ter
NM_001318831.1:c.1651C>T	NP_001305760.1:p.Arg551Ter
NM_001318832.1:c.2284C>T	NP_001305761.1:p.Arg762Ter
NM_001363528.1:c.2251C>T	NP_001350457.1:p.Arg751Ter
NM_021055.2:c.2251C>T	NP_066399.2:p.Arg751Ter
XM_005255531.4:c.2251C>T	XP_005255588.2:p.Arg751Ter
XM_011522636.2:c.2251C>T	XP_011520938.1:p.Arg751Ter
XM_011522637.2:c.2251C>T	XP_011520939.1:p.Arg751Ter
XM_011522638.2:c.2413C>T	XP_011520940.2:p.Arg805Ter
XM_011522639.2:c.2251C>T	XP_011520941.1:p.Arg751Ter
XM_011522640.2:c.2251C>T	XP_011520942.1:p.Arg751Ter
XM_017023615.1:c.2251C>T	XP_016879104.1:p.Arg751Ter
XM_017023616.1:c.2251C>T	XP_016879105.1:p.Arg751Ter
XM_017023617.1:c.2413C>T	XP_016879106.1:p.Arg805Ter
XM_017023618.1:c.907C>T	XP_016879107.1:p.Arg303Ter
XM_024450413.1:c.2251C>T	XP_024306181.1:p.Arg751Ter
NM_000548.5:c.2251C>T MANE Select	NP_000539.2:p.Arg751Ter
NM_001370404.1:c.2251C>T	NP_001357333.1:p.Arg751Ter
NM_001370405.1:c.2251C>T	NP_001357334.1:p.Arg751Ter
NM_001077183.3:c.2251C>T	NP_001070651.1:p.Arg751Ter
NM_001114382.3:c.2251C>T	NP_001107854.1:p.Arg751Ter
NM_001318827.2:c.2140C>T	NP_001305756.1:p.Arg714Ter
NM_001318829.2:c.2104C>T	NP_001305758.1:p.Arg702Ter
NM_001318831.2:c.1651C>T	NP_001305760.1:p.Arg551Ter
NM_001318832.2:c.2284C>T	NP_001305761.1:p.Arg762Ter
NM_001363528.2:c.2251C>T	NP_001350457.1:p.Arg751Ter
NM_021055.3:c.2251C>T	NP_066399.2:p.Arg751Ter