Canonical Allele Identifier: CA017841

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49586
• ClinVar RCV Id: RCV000042847 ; RCV000201152 ; RCV002433527
• dbSNP Id: rs137854155
• MyVariant Identifiers: chr16:g.2126095C>T (hg19) ; chr16:g.2076094C>T (hg38)
• PubMed: PMID:21309039

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076094C>T , CM000678.2:g.2076094C>T	GRCh38
NC_000016.9:g.2126095C>T , CM000678.1:g.2126095C>T	GRCh37
NC_000016.8:g.2066096C>T	NCBI36
NG_005895.1:g.31789C>T , LRG_487:g.31789C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1213C>T	ENSP00000455997.2:n.*1213C>T
ENST00000642206.2:c.2711C>T	ENSP00000495146.2:p.Ala904Val
ENST00000642365.2:c.2666C>T	ENSP00000495459.2:p.Ala889Val
ENST00000644417.2:c.*2103C>T	ENSP00000493912.2:n.*2103C>T
ENST00000646464.2:c.*3720C>T	ENSP00000496610.2:n.*3720C>T
ENST00000219476.9:c.2666C>T MANE Select	ENSP00000219476.3:p.Ala889Val
ENST00000350773.9:c.2666C>T	ENSP00000344383.4:p.Ala889Val
ENST00000401874.7:c.2666C>T	ENSP00000384468.2:p.Ala889Val
ENST00000568454.6:c.2699C>T	ENSP00000454487.1:p.Ala900Val
ENST00000642365.1:c.1323C>T
ENST00000642561.1:c.2666C>T	ENSP00000495099.1:p.Ala889Val
ENST00000642797.1:c.2666C>T	ENSP00000493846.1:p.Ala889Val
ENST00000642936.1:c.2666C>T	ENSP00000494514.1:p.Ala889Val
ENST00000643088.1:c.2666C>T	ENSP00000494747.1:p.Ala889Val
ENST00000643946.1:c.2666C>T	ENSP00000495927.1:p.Ala889Val
ENST00000644043.1:c.2666C>T	ENSP00000496262.1:p.Ala889Val
ENST00000644329.1:c.2666C>T	ENSP00000496611.1:p.Ala889Val
ENST00000644335.1:c.2666C>T	ENSP00000496317.1:p.Ala889Val
ENST00000644399.1:c.2659C>T
ENST00000645024.1:n.948C>T
ENST00000646388.1:c.2666C>T	ENSP00000495921.1:p.Ala889Val
ENST00000646634.1:n.1679C>T
ENST00000219476.7:c.2666C>T	ENSP00000219476.3:p.Ala889Val
ENST00000350773.8:c.2666C>T	ENSP00000344383.4:p.Ala889Val
ENST00000382538.10:c.2519C>T	ENSP00000371978.6:p.Ala840Val
ENST00000401874.6:c.2666C>T	ENSP00000384468.2:p.Ala889Val
ENST00000439117.6:c.*1965C>T	ENSP00000406980.2:n.*1965C>T
ENST00000439673.6:c.2555C>T	ENSP00000399232.2:p.Ala852Val
ENST00000568454.5:c.2699C>T	ENSP00000454487.1:p.Ala900Val
NM_000548.3:c.2666C>T , LRG_487t1:c.2666C>T	NP_000539.2:p.Ala889Val
NM_001077183.1:c.2666C>T	NP_001070651.1:p.Ala889Val
NM_001114382.1:c.2666C>T	NP_001107854.1:p.Ala889Val
XM_005255529.3:c.2666C>T	XP_005255586.2:p.Ala889Val
XM_005255531.3:c.2666C>T	XP_005255588.2:p.Ala889Val
XM_011522636.1:c.2666C>T	XP_011520938.1:p.Ala889Val
XM_011522637.1:c.2666C>T	XP_011520939.1:p.Ala889Val
XM_011522638.1:c.2555C>T	XP_011520940.1:p.Ala852Val
XM_011522639.1:c.2666C>T	XP_011520941.1:p.Ala889Val
XM_011522640.1:c.2666C>T	XP_011520942.1:p.Ala889Val
XM_011522641.1:c.2555C>T	XP_011520943.1:p.Ala852Val
NM_000548.4:c.2666C>T	NP_000539.2:p.Ala889Val
NM_001077183.2:c.2666C>T	NP_001070651.1:p.Ala889Val
NM_001114382.2:c.2666C>T	NP_001107854.1:p.Ala889Val
NM_001318827.1:c.2555C>T	NP_001305756.1:p.Ala852Val
NM_001318829.1:c.2519C>T	NP_001305758.1:p.Ala840Val
NM_001318831.1:c.2066C>T	NP_001305760.1:p.Ala689Val
NM_001318832.1:c.2699C>T	NP_001305761.1:p.Ala900Val
NM_001363528.1:c.2666C>T	NP_001350457.1:p.Ala889Val
NM_021055.2:c.2666C>T	NP_066399.2:p.Ala889Val
XM_005255531.4:c.2666C>T	XP_005255588.2:p.Ala889Val
XM_011522636.2:c.2666C>T	XP_011520938.1:p.Ala889Val
XM_011522637.2:c.2666C>T	XP_011520939.1:p.Ala889Val
XM_011522638.2:c.2828C>T	XP_011520940.2:p.Ala943Val
XM_011522639.2:c.2666C>T	XP_011520941.1:p.Ala889Val
XM_011522640.2:c.2666C>T	XP_011520942.1:p.Ala889Val
XM_017023615.1:c.2666C>T	XP_016879104.1:p.Ala889Val
XM_017023616.1:c.2666C>T	XP_016879105.1:p.Ala889Val
XM_017023617.1:c.2828C>T	XP_016879106.1:p.Ala943Val
XM_017023618.1:c.1322C>T	XP_016879107.1:p.Ala441Val
XM_024450413.1:c.2666C>T	XP_024306181.1:p.Ala889Val
NM_000548.5:c.2666C>T MANE Select	NP_000539.2:p.Ala889Val
NM_001370404.1:c.2666C>T	NP_001357333.1:p.Ala889Val
NM_001370405.1:c.2666C>T	NP_001357334.1:p.Ala889Val
NM_001077183.3:c.2666C>T	NP_001070651.1:p.Ala889Val
NM_001114382.3:c.2666C>T	NP_001107854.1:p.Ala889Val
NM_001318827.2:c.2555C>T	NP_001305756.1:p.Ala852Val
NM_001318829.2:c.2519C>T	NP_001305758.1:p.Ala840Val
NM_001318831.2:c.2066C>T	NP_001305760.1:p.Ala689Val
NM_001318832.2:c.2699C>T	NP_001305761.1:p.Ala900Val
NM_001363528.2:c.2666C>T	NP_001350457.1:p.Ala889Val
NM_021055.3:c.2666C>T	NP_066399.2:p.Ala889Val