Canonical Allele Identifier: CA394304933

Gene: TSC2

Linked Data

• dbSNP Id: rs2151552752
• MyVariant Identifiers: chr16:g.2135298C>G (hg19) ; chr16:g.2085297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085297C>G , CM000678.2:g.2085297C>G	GRCh38
NC_000016.9:g.2135298C>G , CM000678.1:g.2135298C>G	GRCh37
NC_000016.8:g.2075299C>G	NCBI36
NG_005895.1:g.40992C>G , LRG_487:g.40992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2986C>G	ENSP00000455997.2:n.*2986C>G
ENST00000642206.2:c.4484C>G	ENSP00000495146.2:p.Ala1495Gly
ENST00000642365.2:c.4634C>G	ENSP00000495459.2:p.Ala1545Gly
ENST00000644417.2:c.*5017C>G	ENSP00000493912.2:n.*5017C>G
ENST00000646464.2:c.*7386C>G	ENSP00000496610.2:n.*7386C>G
ENST00000219476.9:c.4637C>G MANE Select	ENSP00000219476.3:p.Ala1546Gly
ENST00000350773.9:c.4568C>G	ENSP00000344383.4:p.Ala1523Gly
ENST00000401874.7:c.4436C>G	ENSP00000384468.2:p.Ala1479Gly
ENST00000568454.6:c.4469C>G	ENSP00000454487.1:p.Ala1490Gly
ENST00000569110.2:c.860C>G
ENST00000569930.2:n.2519C>G
ENST00000642365.1:c.3291C>G
ENST00000642561.1:c.4508C>G	ENSP00000495099.1:p.Ala1503Gly
ENST00000642728.1:n.819C>G
ENST00000642791.1:n.234C>G
ENST00000642797.1:c.4439C>G	ENSP00000493846.1:p.Ala1480Gly
ENST00000642936.1:c.4505C>G	ENSP00000494514.1:p.Ala1502Gly
ENST00000643088.1:c.4430C>G	ENSP00000494747.1:p.Ala1477Gly
ENST00000643177.1:n.651C>G
ENST00000643426.1:n.2285C>G
ENST00000643946.1:c.4562C>G	ENSP00000495927.1:p.Ala1521Gly
ENST00000644043.1:c.4508C>G	ENSP00000496262.1:p.Ala1503Gly
ENST00000644278.1:n.119C>G
ENST00000644329.1:c.4436C>G	ENSP00000496611.1:p.Ala1479Gly
ENST00000644335.1:c.4433C>G	ENSP00000496317.1:p.Ala1478Gly
ENST00000644399.1:c.4558C>G
ENST00000645024.1:n.2721C>G
ENST00000646388.1:c.4631C>G	ENSP00000495921.1:p.Ala1544Gly
ENST00000646634.1:n.3452C>G
ENST00000646674.1:n.1889C>G
ENST00000647042.1:n.1860C>G
ENST00000647180.1:n.1750C>G
ENST00000219476.7:c.4637C>G	ENSP00000219476.3:p.Ala1546Gly
ENST00000350773.8:c.4568C>G	ENSP00000344383.4:p.Ala1523Gly
ENST00000382538.10:c.4292C>G	ENSP00000371978.6:p.Ala1431Gly
ENST00000401874.6:c.4436C>G	ENSP00000384468.2:p.Ala1479Gly
ENST00000439117.6:c.*3804C>G	ENSP00000406980.2:n.*3804C>G
ENST00000439673.6:c.4328C>G	ENSP00000399232.2:p.Ala1443Gly
ENST00000497886.5:n.2395C>G
ENST00000568454.5:c.4469C>G	ENSP00000454487.1:p.Ala1490Gly
ENST00000569110.1:c.819C>G
ENST00000569930.1:n.1752C>G
NM_000548.3:c.4637C>G , LRG_487t1:c.4637C>G	NP_000539.2:p.Ala1546Gly
NM_001077183.1:c.4436C>G	NP_001070651.1:p.Ala1479Gly
NM_001114382.1:c.4568C>G	NP_001107854.1:p.Ala1523Gly
XM_005255529.3:c.4508C>G	XP_005255586.2:p.Ala1503Gly
XM_005255531.3:c.4439C>G	XP_005255588.2:p.Ala1480Gly
XM_011522636.1:c.4691C>G	XP_011520938.1:p.Ala1564Gly
XM_011522637.1:c.4688C>G	XP_011520939.1:p.Ala1563Gly
XM_011522638.1:c.4580C>G	XP_011520940.1:p.Ala1527Gly
XM_011522639.1:c.4562C>G	XP_011520941.1:p.Ala1521Gly
XM_011522640.1:c.4559C>G	XP_011520942.1:p.Ala1520Gly
XM_011522641.1:c.4328C>G	XP_011520943.1:p.Ala1443Gly
NM_000548.4:c.4637C>G	NP_000539.2:p.Ala1546Gly
NM_001077183.2:c.4436C>G	NP_001070651.1:p.Ala1479Gly
NM_001114382.2:c.4568C>G	NP_001107854.1:p.Ala1523Gly
NM_001318827.1:c.4328C>G	NP_001305756.1:p.Ala1443Gly
NM_001318829.1:c.4292C>G	NP_001305758.1:p.Ala1431Gly
NM_001318831.1:c.3905C>G	NP_001305760.1:p.Ala1302Gly
NM_001318832.1:c.4469C>G	NP_001305761.1:p.Ala1490Gly
NM_001363528.1:c.4439C>G	NP_001350457.1:p.Ala1480Gly
NM_021055.2:c.4508C>G	NP_066399.2:p.Ala1503Gly
XM_005255531.4:c.4439C>G	XP_005255588.2:p.Ala1480Gly
XM_011522636.2:c.4691C>G	XP_011520938.1:p.Ala1564Gly
XM_011522637.2:c.4688C>G	XP_011520939.1:p.Ala1563Gly
XM_011522638.2:c.4853C>G	XP_011520940.2:p.Ala1618Gly
XM_011522639.2:c.4562C>G	XP_011520941.1:p.Ala1521Gly
XM_011522640.2:c.4559C>G	XP_011520942.1:p.Ala1520Gly
XM_017023615.1:c.4634C>G	XP_016879104.1:p.Ala1545Gly
XM_017023616.1:c.4505C>G	XP_016879105.1:p.Ala1502Gly
XM_017023617.1:c.4601C>G	XP_016879106.1:p.Ala1534Gly
XM_017023618.1:c.3347C>G	XP_016879107.1:p.Ala1116Gly
XM_024450413.1:c.4436C>G	XP_024306181.1:p.Ala1479Gly
NM_000548.5:c.4637C>G MANE Select	NP_000539.2:p.Ala1546Gly
NM_001370404.1:c.4505C>G	NP_001357333.1:p.Ala1502Gly
NM_001370405.1:c.4508C>G	NP_001357334.1:p.Ala1503Gly
NM_001077183.3:c.4436C>G	NP_001070651.1:p.Ala1479Gly
NM_001114382.3:c.4568C>G	NP_001107854.1:p.Ala1523Gly
NM_001318827.2:c.4328C>G	NP_001305756.1:p.Ala1443Gly
NM_001318829.2:c.4292C>G	NP_001305758.1:p.Ala1431Gly
NM_001318831.2:c.3905C>G	NP_001305760.1:p.Ala1302Gly
NM_001318832.2:c.4469C>G	NP_001305761.1:p.Ala1490Gly
NM_001363528.2:c.4439C>G	NP_001350457.1:p.Ala1480Gly
NM_021055.3:c.4508C>G	NP_066399.2:p.Ala1503Gly