Canonical Allele Identifier: CA018343

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49236
• ClinVar RCV Id: RCV000042495 ; RCV002433525
• dbSNP Id: rs45438592
• MyVariant Identifiers: chr16:g.2129040C>T (hg19) ; chr16:g.2079039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079039C>T , CM000678.2:g.2079039C>T	GRCh38
NC_000016.9:g.2129040C>T , CM000678.1:g.2129040C>T	GRCh37
NC_000016.8:g.2069041C>T	NCBI36
NG_005895.1:g.34734C>T , LRG_487:g.34734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1392C>T	ENSP00000455997.2:n.*1392C>T
ENST00000642206.2:c.2890C>T	ENSP00000495146.2:p.Gln964Ter
ENST00000642365.2:c.2971C>T	ENSP00000495459.2:p.Gln991Ter
ENST00000644417.2:c.*3423C>T	ENSP00000493912.2:n.*3423C>T
ENST00000646464.2:c.*3896C>T	ENSP00000496610.2:n.*3896C>T
ENST00000219476.9:c.2974C>T MANE Select	ENSP00000219476.3:p.Gln992Ter
ENST00000350773.9:c.2974C>T	ENSP00000344383.4:p.Gln992Ter
ENST00000401874.7:c.2842C>T	ENSP00000384468.2:p.Gln948Ter
ENST00000471143.6:c.202C>T	ENSP00000458541.2:n.202C>T
ENST00000568366.6:n.331C>T
ENST00000568454.6:c.2875C>T	ENSP00000454487.1:p.Gln959Ter
ENST00000642365.1:c.1628C>T
ENST00000642561.1:c.2845C>T	ENSP00000495099.1:p.Gln949Ter
ENST00000642797.1:c.2845C>T	ENSP00000493846.1:p.Gln949Ter
ENST00000642936.1:c.2842C>T	ENSP00000494514.1:p.Gln948Ter
ENST00000643088.1:c.2842C>T	ENSP00000494747.1:p.Gln948Ter
ENST00000643946.1:c.2974C>T	ENSP00000495927.1:p.Gln992Ter
ENST00000644043.1:c.2845C>T	ENSP00000496262.1:p.Gln949Ter
ENST00000644329.1:c.2842C>T	ENSP00000496611.1:p.Gln948Ter
ENST00000644335.1:c.2845C>T	ENSP00000496317.1:p.Gln949Ter
ENST00000644399.1:c.2964C>T
ENST00000644722.1:n.120C>T
ENST00000645024.1:n.1127C>T
ENST00000646388.1:c.2974C>T	ENSP00000495921.1:p.Gln992Ter
ENST00000646634.1:n.1858C>T
ENST00000647042.1:n.266C>T
ENST00000219476.7:c.2974C>T	ENSP00000219476.3:p.Gln992Ter
ENST00000350773.8:c.2974C>T	ENSP00000344383.4:p.Gln992Ter
ENST00000382538.10:c.2698C>T	ENSP00000371978.6:p.Gln900Ter
ENST00000401874.6:c.2842C>T	ENSP00000384468.2:p.Gln948Ter
ENST00000439117.6:c.*2141C>T	ENSP00000406980.2:n.*2141C>T
ENST00000439673.6:c.2734C>T	ENSP00000399232.2:p.Gln912Ter
ENST00000471143.5:c.200C>T
ENST00000483020.5:c.214C>T	ENSP00000460310.1:n.214C>T
ENST00000497886.5:n.801C>T
ENST00000561695.1:n.120C>T
ENST00000568366.5:n.331C>T
ENST00000568454.5:c.2875C>T	ENSP00000454487.1:p.Gln959Ter
NM_000548.3:c.2974C>T , LRG_487t1:c.2974C>T	NP_000539.2:p.Gln992Ter
NM_001077183.1:c.2842C>T	NP_001070651.1:p.Gln948Ter
NM_001114382.1:c.2974C>T	NP_001107854.1:p.Gln992Ter
XM_005255529.3:c.2845C>T	XP_005255586.2:p.Gln949Ter
XM_005255531.3:c.2845C>T	XP_005255588.2:p.Gln949Ter
XM_011522636.1:c.2974C>T	XP_011520938.1:p.Gln992Ter
XM_011522637.1:c.2971C>T	XP_011520939.1:p.Gln991Ter
XM_011522638.1:c.2863C>T	XP_011520940.1:p.Gln955Ter
XM_011522639.1:c.2845C>T	XP_011520941.1:p.Gln949Ter
XM_011522640.1:c.2842C>T	XP_011520942.1:p.Gln948Ter
XM_011522641.1:c.2734C>T	XP_011520943.1:p.Gln912Ter
NM_000548.4:c.2974C>T	NP_000539.2:p.Gln992Ter
NM_001077183.2:c.2842C>T	NP_001070651.1:p.Gln948Ter
NM_001114382.2:c.2974C>T	NP_001107854.1:p.Gln992Ter
NM_001318827.1:c.2734C>T	NP_001305756.1:p.Gln912Ter
NM_001318829.1:c.2698C>T	NP_001305758.1:p.Gln900Ter
NM_001318831.1:c.2242C>T	NP_001305760.1:p.Gln748Ter
NM_001318832.1:c.2875C>T	NP_001305761.1:p.Gln959Ter
NM_001363528.1:c.2845C>T	NP_001350457.1:p.Gln949Ter
NM_021055.2:c.2845C>T	NP_066399.2:p.Gln949Ter
XM_005255531.4:c.2845C>T	XP_005255588.2:p.Gln949Ter
XM_011522636.2:c.2974C>T	XP_011520938.1:p.Gln992Ter
XM_011522637.2:c.2971C>T	XP_011520939.1:p.Gln991Ter
XM_011522638.2:c.3136C>T	XP_011520940.2:p.Gln1046Ter
XM_011522639.2:c.2845C>T	XP_011520941.1:p.Gln949Ter
XM_011522640.2:c.2842C>T	XP_011520942.1:p.Gln948Ter
XM_017023615.1:c.2971C>T	XP_016879104.1:p.Gln991Ter
XM_017023616.1:c.2842C>T	XP_016879105.1:p.Gln948Ter
XM_017023617.1:c.3007C>T	XP_016879106.1:p.Gln1003Ter
XM_017023618.1:c.1630C>T	XP_016879107.1:p.Gln544Ter
XM_024450413.1:c.2842C>T	XP_024306181.1:p.Gln948Ter
NM_000548.5:c.2974C>T MANE Select	NP_000539.2:p.Gln992Ter
NM_001370404.1:c.2842C>T	NP_001357333.1:p.Gln948Ter
NM_001370405.1:c.2845C>T	NP_001357334.1:p.Gln949Ter
NM_001077183.3:c.2842C>T	NP_001070651.1:p.Gln948Ter
NM_001114382.3:c.2974C>T	NP_001107854.1:p.Gln992Ter
NM_001318827.2:c.2734C>T	NP_001305756.1:p.Gln912Ter
NM_001318829.2:c.2698C>T	NP_001305758.1:p.Gln900Ter
NM_001318831.2:c.2242C>T	NP_001305760.1:p.Gln748Ter
NM_001318832.2:c.2875C>T	NP_001305761.1:p.Gln959Ter
NM_001363528.2:c.2845C>T	NP_001350457.1:p.Gln949Ter
NM_021055.3:c.2845C>T	NP_066399.2:p.Gln949Ter