Canonical Allele Identifier: CA394285453

Gene: TSC2

Linked Data

• dbSNP Id: rs2089826724
• gnomAD v3: 16-2079316-A-C
• gnomAD v4: 16-2079316-A-C
• MyVariant Identifiers: chr16:g.2129317A>C (hg19) ; chr16:g.2079316A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079316A>C , CM000678.2:g.2079316A>C	GRCh38
NC_000016.9:g.2129317A>C , CM000678.1:g.2129317A>C	GRCh37
NC_000016.8:g.2069318A>C	NCBI36
NG_005895.1:g.35011A>C , LRG_487:g.35011A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1590A>C	ENSP00000455997.2:n.*1590A>C
ENST00000642206.2:c.3088A>C	ENSP00000495146.2:p.Lys1030Gln
ENST00000642365.2:c.3169A>C	ENSP00000495459.2:p.Lys1057Gln
ENST00000644417.2:c.*3621A>C	ENSP00000493912.2:n.*3621A>C
ENST00000646464.2:c.*4094A>C	ENSP00000496610.2:n.*4094A>C
ENST00000219476.9:c.3172A>C MANE Select	ENSP00000219476.3:p.Lys1058Gln
ENST00000350773.9:c.3172A>C	ENSP00000344383.4:p.Lys1058Gln
ENST00000401874.7:c.3040A>C	ENSP00000384468.2:p.Lys1014Gln
ENST00000471143.6:c.400A>C	ENSP00000458541.2:n.400A>C
ENST00000568366.6:n.529A>C
ENST00000568454.6:c.3073A>C	ENSP00000454487.1:p.Lys1025Gln
ENST00000642365.1:c.1826A>C
ENST00000642561.1:c.3043A>C	ENSP00000495099.1:p.Lys1015Gln
ENST00000642797.1:c.3043A>C	ENSP00000493846.1:p.Lys1015Gln
ENST00000642936.1:c.3040A>C	ENSP00000494514.1:p.Lys1014Gln
ENST00000643088.1:c.3040A>C	ENSP00000494747.1:p.Lys1014Gln
ENST00000643946.1:c.3172A>C	ENSP00000495927.1:p.Lys1058Gln
ENST00000644043.1:c.3043A>C	ENSP00000496262.1:p.Lys1015Gln
ENST00000644329.1:c.3040A>C	ENSP00000496611.1:p.Lys1014Gln
ENST00000644335.1:c.3043A>C	ENSP00000496317.1:p.Lys1015Gln
ENST00000644399.1:c.3162A>C
ENST00000644722.1:n.318A>C
ENST00000645024.1:n.1325A>C
ENST00000646388.1:c.3172A>C	ENSP00000495921.1:p.Lys1058Gln
ENST00000646634.1:n.2056A>C
ENST00000647042.1:n.464A>C
ENST00000219476.7:c.3172A>C	ENSP00000219476.3:p.Lys1058Gln
ENST00000350773.8:c.3172A>C	ENSP00000344383.4:p.Lys1058Gln
ENST00000382538.10:c.2896A>C	ENSP00000371978.6:p.Lys966Gln
ENST00000401874.6:c.3040A>C	ENSP00000384468.2:p.Lys1014Gln
ENST00000439117.6:c.*2339A>C	ENSP00000406980.2:n.*2339A>C
ENST00000439673.6:c.2932A>C	ENSP00000399232.2:p.Lys978Gln
ENST00000471143.5:c.398A>C
ENST00000483020.5:c.412A>C	ENSP00000460310.1:n.412A>C
ENST00000497886.5:n.999A>C
ENST00000561695.1:n.397A>C
ENST00000568366.5:n.529A>C
ENST00000568454.5:c.3073A>C	ENSP00000454487.1:p.Lys1025Gln
NM_000548.3:c.3172A>C , LRG_487t1:c.3172A>C	NP_000539.2:p.Lys1058Gln
NM_001077183.1:c.3040A>C	NP_001070651.1:p.Lys1014Gln
NM_001114382.1:c.3172A>C	NP_001107854.1:p.Lys1058Gln
XM_005255529.3:c.3043A>C	XP_005255586.2:p.Lys1015Gln
XM_005255531.3:c.3043A>C	XP_005255588.2:p.Lys1015Gln
XM_011522636.1:c.3172A>C	XP_011520938.1:p.Lys1058Gln
XM_011522637.1:c.3169A>C	XP_011520939.1:p.Lys1057Gln
XM_011522638.1:c.3061A>C	XP_011520940.1:p.Lys1021Gln
XM_011522639.1:c.3043A>C	XP_011520941.1:p.Lys1015Gln
XM_011522640.1:c.3040A>C	XP_011520942.1:p.Lys1014Gln
XM_011522641.1:c.2932A>C	XP_011520943.1:p.Lys978Gln
NM_000548.4:c.3172A>C	NP_000539.2:p.Lys1058Gln
NM_001077183.2:c.3040A>C	NP_001070651.1:p.Lys1014Gln
NM_001114382.2:c.3172A>C	NP_001107854.1:p.Lys1058Gln
NM_001318827.1:c.2932A>C	NP_001305756.1:p.Lys978Gln
NM_001318829.1:c.2896A>C	NP_001305758.1:p.Lys966Gln
NM_001318831.1:c.2440A>C	NP_001305760.1:p.Lys814Gln
NM_001318832.1:c.3073A>C	NP_001305761.1:p.Lys1025Gln
NM_001363528.1:c.3043A>C	NP_001350457.1:p.Lys1015Gln
NM_021055.2:c.3043A>C	NP_066399.2:p.Lys1015Gln
XM_005255531.4:c.3043A>C	XP_005255588.2:p.Lys1015Gln
XM_011522636.2:c.3172A>C	XP_011520938.1:p.Lys1058Gln
XM_011522637.2:c.3169A>C	XP_011520939.1:p.Lys1057Gln
XM_011522638.2:c.3334A>C	XP_011520940.2:p.Lys1112Gln
XM_011522639.2:c.3043A>C	XP_011520941.1:p.Lys1015Gln
XM_011522640.2:c.3040A>C	XP_011520942.1:p.Lys1014Gln
XM_017023615.1:c.3169A>C	XP_016879104.1:p.Lys1057Gln
XM_017023616.1:c.3040A>C	XP_016879105.1:p.Lys1014Gln
XM_017023617.1:c.3205A>C	XP_016879106.1:p.Lys1069Gln
XM_017023618.1:c.1828A>C	XP_016879107.1:p.Lys610Gln
XM_024450413.1:c.3040A>C	XP_024306181.1:p.Lys1014Gln
NM_000548.5:c.3172A>C MANE Select	NP_000539.2:p.Lys1058Gln
NM_001370404.1:c.3040A>C	NP_001357333.1:p.Lys1014Gln
NM_001370405.1:c.3043A>C	NP_001357334.1:p.Lys1015Gln
NM_001077183.3:c.3040A>C	NP_001070651.1:p.Lys1014Gln
NM_001114382.3:c.3172A>C	NP_001107854.1:p.Lys1058Gln
NM_001318827.2:c.2932A>C	NP_001305756.1:p.Lys978Gln
NM_001318829.2:c.2896A>C	NP_001305758.1:p.Lys966Gln
NM_001318831.2:c.2440A>C	NP_001305760.1:p.Lys814Gln
NM_001318832.2:c.3073A>C	NP_001305761.1:p.Lys1025Gln
NM_001363528.2:c.3043A>C	NP_001350457.1:p.Lys1015Gln
NM_021055.3:c.3043A>C	NP_066399.2:p.Lys1015Gln