Canonical Allele Identifier: CA16615089

Gene: TSC2

Linked Data

• ClinVar Variation Id: 406049
• ClinVar RCV Id: RCV000467462
• dbSNP Id: rs1060500947
• MyVariant Identifiers: chr16:g.2129347A>C (hg19) ; chr16:g.2079346A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079346A>C , CM000678.2:g.2079346A>C	GRCh38
NC_000016.9:g.2129347A>C , CM000678.1:g.2129347A>C	GRCh37
NC_000016.8:g.2069348A>C	NCBI36
NG_005895.1:g.35041A>C , LRG_487:g.35041A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1620A>C	ENSP00000455997.2:n.*1620A>C
ENST00000642206.2:c.3118A>C	ENSP00000495146.2:p.Thr1040Pro
ENST00000642365.2:c.3199A>C	ENSP00000495459.2:p.Thr1067Pro
ENST00000644417.2:c.*3651A>C	ENSP00000493912.2:n.*3651A>C
ENST00000646464.2:c.*4124A>C	ENSP00000496610.2:n.*4124A>C
ENST00000219476.9:c.3202A>C MANE Select	ENSP00000219476.3:p.Thr1068Pro
ENST00000350773.9:c.3202A>C	ENSP00000344383.4:p.Thr1068Pro
ENST00000401874.7:c.3070A>C	ENSP00000384468.2:p.Thr1024Pro
ENST00000471143.6:c.430A>C	ENSP00000458541.2:n.430A>C
ENST00000568366.6:n.559A>C
ENST00000568454.6:c.3103A>C	ENSP00000454487.1:p.Thr1035Pro
ENST00000642365.1:c.1856A>C
ENST00000642561.1:c.3073A>C	ENSP00000495099.1:p.Thr1025Pro
ENST00000642797.1:c.3073A>C	ENSP00000493846.1:p.Thr1025Pro
ENST00000642936.1:c.3070A>C	ENSP00000494514.1:p.Thr1024Pro
ENST00000643088.1:c.3070A>C	ENSP00000494747.1:p.Thr1024Pro
ENST00000643946.1:c.3202A>C	ENSP00000495927.1:p.Thr1068Pro
ENST00000644043.1:c.3073A>C	ENSP00000496262.1:p.Thr1025Pro
ENST00000644329.1:c.3070A>C	ENSP00000496611.1:p.Thr1024Pro
ENST00000644335.1:c.3073A>C	ENSP00000496317.1:p.Thr1025Pro
ENST00000644399.1:c.3192A>C
ENST00000644722.1:n.348A>C
ENST00000645024.1:n.1355A>C
ENST00000646388.1:c.3202A>C	ENSP00000495921.1:p.Thr1068Pro
ENST00000646634.1:n.2086A>C
ENST00000647042.1:n.494A>C
ENST00000219476.7:c.3202A>C	ENSP00000219476.3:p.Thr1068Pro
ENST00000350773.8:c.3202A>C	ENSP00000344383.4:p.Thr1068Pro
ENST00000382538.10:c.2926A>C	ENSP00000371978.6:p.Thr976Pro
ENST00000401874.6:c.3070A>C	ENSP00000384468.2:p.Thr1024Pro
ENST00000439117.6:c.*2369A>C	ENSP00000406980.2:n.*2369A>C
ENST00000439673.6:c.2962A>C	ENSP00000399232.2:p.Thr988Pro
ENST00000471143.5:c.428A>C
ENST00000483020.5:c.442A>C	ENSP00000460310.1:n.442A>C
ENST00000497886.5:n.1029A>C
ENST00000561695.1:n.427A>C
ENST00000568366.5:n.559A>C
ENST00000568454.5:c.3103A>C	ENSP00000454487.1:p.Thr1035Pro
NM_000548.3:c.3202A>C , LRG_487t1:c.3202A>C	NP_000539.2:p.Thr1068Pro
NM_001077183.1:c.3070A>C	NP_001070651.1:p.Thr1024Pro
NM_001114382.1:c.3202A>C	NP_001107854.1:p.Thr1068Pro
XM_005255529.3:c.3073A>C	XP_005255586.2:p.Thr1025Pro
XM_005255531.3:c.3073A>C	XP_005255588.2:p.Thr1025Pro
XM_011522636.1:c.3202A>C	XP_011520938.1:p.Thr1068Pro
XM_011522637.1:c.3199A>C	XP_011520939.1:p.Thr1067Pro
XM_011522638.1:c.3091A>C	XP_011520940.1:p.Thr1031Pro
XM_011522639.1:c.3073A>C	XP_011520941.1:p.Thr1025Pro
XM_011522640.1:c.3070A>C	XP_011520942.1:p.Thr1024Pro
XM_011522641.1:c.2962A>C	XP_011520943.1:p.Thr988Pro
NM_000548.4:c.3202A>C	NP_000539.2:p.Thr1068Pro
NM_001077183.2:c.3070A>C	NP_001070651.1:p.Thr1024Pro
NM_001114382.2:c.3202A>C	NP_001107854.1:p.Thr1068Pro
NM_001318827.1:c.2962A>C	NP_001305756.1:p.Thr988Pro
NM_001318829.1:c.2926A>C	NP_001305758.1:p.Thr976Pro
NM_001318831.1:c.2470A>C	NP_001305760.1:p.Thr824Pro
NM_001318832.1:c.3103A>C	NP_001305761.1:p.Thr1035Pro
NM_001363528.1:c.3073A>C	NP_001350457.1:p.Thr1025Pro
NM_021055.2:c.3073A>C	NP_066399.2:p.Thr1025Pro
XM_005255531.4:c.3073A>C	XP_005255588.2:p.Thr1025Pro
XM_011522636.2:c.3202A>C	XP_011520938.1:p.Thr1068Pro
XM_011522637.2:c.3199A>C	XP_011520939.1:p.Thr1067Pro
XM_011522638.2:c.3364A>C	XP_011520940.2:p.Thr1122Pro
XM_011522639.2:c.3073A>C	XP_011520941.1:p.Thr1025Pro
XM_011522640.2:c.3070A>C	XP_011520942.1:p.Thr1024Pro
XM_017023615.1:c.3199A>C	XP_016879104.1:p.Thr1067Pro
XM_017023616.1:c.3070A>C	XP_016879105.1:p.Thr1024Pro
XM_017023617.1:c.3235A>C	XP_016879106.1:p.Thr1079Pro
XM_017023618.1:c.1858A>C	XP_016879107.1:p.Thr620Pro
XM_024450413.1:c.3070A>C	XP_024306181.1:p.Thr1024Pro
NM_000548.5:c.3202A>C MANE Select	NP_000539.2:p.Thr1068Pro
NM_001370404.1:c.3070A>C	NP_001357333.1:p.Thr1024Pro
NM_001370405.1:c.3073A>C	NP_001357334.1:p.Thr1025Pro
NM_001077183.3:c.3070A>C	NP_001070651.1:p.Thr1024Pro
NM_001114382.3:c.3202A>C	NP_001107854.1:p.Thr1068Pro
NM_001318827.2:c.2962A>C	NP_001305756.1:p.Thr988Pro
NM_001318829.2:c.2926A>C	NP_001305758.1:p.Thr976Pro
NM_001318831.2:c.2470A>C	NP_001305760.1:p.Thr824Pro
NM_001318832.2:c.3103A>C	NP_001305761.1:p.Thr1035Pro
NM_001363528.2:c.3073A>C	NP_001350457.1:p.Thr1025Pro
NM_021055.3:c.3073A>C	NP_066399.2:p.Thr1025Pro