Canonical Allele Identifier: CA394302117

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2015868
• ClinVar RCV Id: RCV002846573
• MyVariant Identifiers: chr16:g.2134640A>G (hg19) ; chr16:g.2084639A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084639A>G , CM000678.2:g.2084639A>G	GRCh38
NC_000016.9:g.2134640A>G , CM000678.1:g.2134640A>G	GRCh37
NC_000016.8:g.2074641A>G	NCBI36
NG_005895.1:g.40334A>G , LRG_487:g.40334A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2766A>G	ENSP00000455997.2:n.*2766A>G
ENST00000642206.2:c.4264A>G	ENSP00000495146.2:p.Lys1422Glu
ENST00000642365.2:c.4414A>G	ENSP00000495459.2:p.Lys1472Glu
ENST00000644417.2:c.*4797A>G	ENSP00000493912.2:n.*4797A>G
ENST00000646464.2:c.*7166A>G	ENSP00000496610.2:n.*7166A>G
ENST00000219476.9:c.4417A>G MANE Select	ENSP00000219476.3:p.Lys1473Glu
ENST00000350773.9:c.4348A>G	ENSP00000344383.4:p.Lys1450Glu
ENST00000401874.7:c.4216A>G	ENSP00000384468.2:p.Lys1406Glu
ENST00000568454.6:c.4249A>G	ENSP00000454487.1:p.Lys1417Glu
ENST00000569110.2:c.653A>G
ENST00000569930.2:n.2299A>G
ENST00000642365.1:c.3071A>G
ENST00000642561.1:c.4288A>G	ENSP00000495099.1:p.Lys1430Glu
ENST00000642728.1:n.599A>G
ENST00000642797.1:c.4219A>G	ENSP00000493846.1:p.Lys1407Glu
ENST00000642936.1:c.4285A>G	ENSP00000494514.1:p.Lys1429Glu
ENST00000643088.1:c.4216A>G	ENSP00000494747.1:p.Lys1406Glu
ENST00000643177.1:n.431A>G
ENST00000643426.1:n.2065A>G
ENST00000643946.1:c.4348A>G	ENSP00000495927.1:p.Lys1450Glu
ENST00000644043.1:c.4288A>G	ENSP00000496262.1:p.Lys1430Glu
ENST00000644329.1:c.4216A>G	ENSP00000496611.1:p.Lys1406Glu
ENST00000644335.1:c.4219A>G	ENSP00000496317.1:p.Lys1407Glu
ENST00000644399.1:c.4338A>G
ENST00000645024.1:n.2501A>G
ENST00000646388.1:c.4417A>G	ENSP00000495921.1:p.Lys1473Glu
ENST00000646634.1:n.3232A>G
ENST00000646674.1:n.1669A>G
ENST00000647042.1:n.1640A>G
ENST00000647180.1:n.1530A>G
ENST00000219476.7:c.4417A>G	ENSP00000219476.3:p.Lys1473Glu
ENST00000350773.8:c.4348A>G	ENSP00000344383.4:p.Lys1450Glu
ENST00000382538.10:c.4072A>G	ENSP00000371978.6:p.Lys1358Glu
ENST00000401874.6:c.4216A>G	ENSP00000384468.2:p.Lys1406Glu
ENST00000439117.6:c.*3584A>G	ENSP00000406980.2:n.*3584A>G
ENST00000439673.6:c.4108A>G	ENSP00000399232.2:p.Lys1370Glu
ENST00000497886.5:n.2175A>G
ENST00000568454.5:c.4249A>G	ENSP00000454487.1:p.Lys1417Glu
ENST00000569110.1:c.599A>G
ENST00000569930.1:n.1532A>G
NM_000548.3:c.4417A>G , LRG_487t1:c.4417A>G	NP_000539.2:p.Lys1473Glu
NM_001077183.1:c.4216A>G	NP_001070651.1:p.Lys1406Glu
NM_001114382.1:c.4348A>G	NP_001107854.1:p.Lys1450Glu
XM_005255529.3:c.4288A>G	XP_005255586.2:p.Lys1430Glu
XM_005255531.3:c.4219A>G	XP_005255588.2:p.Lys1407Glu
XM_011522636.1:c.4471A>G	XP_011520938.1:p.Lys1491Glu
XM_011522637.1:c.4468A>G	XP_011520939.1:p.Lys1490Glu
XM_011522638.1:c.4360A>G	XP_011520940.1:p.Lys1454Glu
XM_011522639.1:c.4342A>G	XP_011520941.1:p.Lys1448Glu
XM_011522640.1:c.4339A>G	XP_011520942.1:p.Lys1447Glu
XM_011522641.1:c.4108A>G	XP_011520943.1:p.Lys1370Glu
NM_000548.4:c.4417A>G	NP_000539.2:p.Lys1473Glu
NM_001077183.2:c.4216A>G	NP_001070651.1:p.Lys1406Glu
NM_001114382.2:c.4348A>G	NP_001107854.1:p.Lys1450Glu
NM_001318827.1:c.4108A>G	NP_001305756.1:p.Lys1370Glu
NM_001318829.1:c.4072A>G	NP_001305758.1:p.Lys1358Glu
NM_001318831.1:c.3685A>G	NP_001305760.1:p.Lys1229Glu
NM_001318832.1:c.4249A>G	NP_001305761.1:p.Lys1417Glu
NM_001363528.1:c.4219A>G	NP_001350457.1:p.Lys1407Glu
NM_021055.2:c.4288A>G	NP_066399.2:p.Lys1430Glu
XM_005255531.4:c.4219A>G	XP_005255588.2:p.Lys1407Glu
XM_011522636.2:c.4471A>G	XP_011520938.1:p.Lys1491Glu
XM_011522637.2:c.4468A>G	XP_011520939.1:p.Lys1490Glu
XM_011522638.2:c.4633A>G	XP_011520940.2:p.Lys1545Glu
XM_011522639.2:c.4342A>G	XP_011520941.1:p.Lys1448Glu
XM_011522640.2:c.4339A>G	XP_011520942.1:p.Lys1447Glu
XM_017023615.1:c.4414A>G	XP_016879104.1:p.Lys1472Glu
XM_017023616.1:c.4285A>G	XP_016879105.1:p.Lys1429Glu
XM_017023617.1:c.4381A>G	XP_016879106.1:p.Lys1461Glu
XM_017023618.1:c.3127A>G	XP_016879107.1:p.Lys1043Glu
XM_024450413.1:c.4216A>G	XP_024306181.1:p.Lys1406Glu
NM_000548.5:c.4417A>G MANE Select	NP_000539.2:p.Lys1473Glu
NM_001370404.1:c.4285A>G	NP_001357333.1:p.Lys1429Glu
NM_001370405.1:c.4288A>G	NP_001357334.1:p.Lys1430Glu
NM_001077183.3:c.4216A>G	NP_001070651.1:p.Lys1406Glu
NM_001114382.3:c.4348A>G	NP_001107854.1:p.Lys1450Glu
NM_001318827.2:c.4108A>G	NP_001305756.1:p.Lys1370Glu
NM_001318829.2:c.4072A>G	NP_001305758.1:p.Lys1358Glu
NM_001318831.2:c.3685A>G	NP_001305760.1:p.Lys1229Glu
NM_001318832.2:c.4249A>G	NP_001305761.1:p.Lys1417Glu
NM_001363528.2:c.4219A>G	NP_001350457.1:p.Lys1407Glu
NM_021055.3:c.4288A>G	NP_066399.2:p.Lys1430Glu