Canonical Allele Identifier: CA276756154

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086234C>T , CM000678.2:g.2086234C>T	GRCh38
NC_000016.9:g.2136235C>T , CM000678.1:g.2136235C>T	GRCh37
NC_000016.8:g.2076236C>T	NCBI36
NG_005895.1:g.41929C>T , LRG_487:g.41929C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4704C>T MANE Select	NP_000539.2:p.Ser1568=
ENST00000219476.9:c.4704C>T MANE Select	ENSP00000219476.3:p.Ser1568=
NM_000548.3:c.4704C>T , LRG_487t1:c.4704C>T	NP_000539.2:p.Ser1568=
NM_000548.4:c.4704C>T	NP_000539.2:p.Ser1568=
NM_001077183.1:c.4503C>T	NP_001070651.1:p.Ser1501=
NM_001077183.2:c.4503C>T	NP_001070651.1:p.Ser1501=
NM_001077183.3:c.4503C>T	NP_001070651.1:p.Ser1501=
NM_001114382.1:c.4635C>T	NP_001107854.1:p.Ser1545=
NM_001114382.2:c.4635C>T	NP_001107854.1:p.Ser1545=
NM_001114382.3:c.4635C>T	NP_001107854.1:p.Ser1545=
NM_001318827.1:c.4395C>T	NP_001305756.1:p.Ser1465=
NM_001318827.2:c.4395C>T	NP_001305756.1:p.Ser1465=
NM_001318829.1:c.4359C>T	NP_001305758.1:p.Ser1453=
NM_001318829.2:c.4359C>T	NP_001305758.1:p.Ser1453=
NM_001318831.1:c.3972C>T	NP_001305760.1:p.Ser1324=
NM_001318831.2:c.3972C>T	NP_001305760.1:p.Ser1324=
NM_001318832.1:c.4536C>T	NP_001305761.1:p.Ser1512=
NM_001318832.2:c.4536C>T	NP_001305761.1:p.Ser1512=
NM_001363528.1:c.4506C>T	NP_001350457.1:p.Ser1502=
NM_001363528.2:c.4506C>T	NP_001350457.1:p.Ser1502=
NM_001370404.1:c.4572C>T	NP_001357333.1:p.Ser1524=
NM_001370405.1:c.4575C>T	NP_001357334.1:p.Ser1525=
NM_021055.2:c.4575C>T	NP_066399.2:p.Ser1525=
NM_021055.3:c.4575C>T	NP_066399.2:p.Ser1525=
ENST00000219476.7:c.4704C>T	ENSP00000219476.3:p.Ser1568=
ENST00000350773.8:c.4635C>T	ENSP00000344383.4:p.Ser1545=
ENST00000350773.9:c.4635C>T	ENSP00000344383.4:p.Ser1545=
ENST00000382538.10:c.4359C>T	ENSP00000371978.6:p.Ser1453=
ENST00000401874.6:c.4503C>T	ENSP00000384468.2:p.Ser1501=
ENST00000401874.7:c.4503C>T	ENSP00000384468.2:p.Ser1501=
ENST00000439117.6:c.*3871C>T	ENSP00000406980.2:n.*3871C>T
ENST00000439673.6:c.4395C>T	ENSP00000399232.2:p.Ser1465=
ENST00000497886.5:n.2462C>T
ENST00000568454.5:c.4536C>T	ENSP00000454487.1:p.Ser1512=
ENST00000568454.6:c.4536C>T	ENSP00000454487.1:p.Ser1512=
ENST00000568566.6:c.*3053C>T	ENSP00000455997.2:n.*3053C>T
ENST00000569110.1:c.886C>T
ENST00000569110.2:c.927C>T
ENST00000569930.1:n.1819C>T
ENST00000569930.2:n.2586C>T
ENST00000642206.2:c.4551C>T	ENSP00000495146.2:p.Ser1517=
ENST00000642365.1:c.3358C>T
ENST00000642365.2:c.4701C>T	ENSP00000495459.2:p.Ser1567=
ENST00000642561.1:c.4575C>T	ENSP00000495099.1:p.Ser1525=
ENST00000642728.1:n.886C>T
ENST00000642791.1:n.301C>T
ENST00000642797.1:c.4506C>T	ENSP00000493846.1:p.Ser1502=
ENST00000642936.1:c.4572C>T	ENSP00000494514.1:p.Ser1524=
ENST00000643088.1:c.4497C>T	ENSP00000494747.1:p.Ser1499=
ENST00000643177.1:n.718C>T
ENST00000643426.1:n.2352C>T
ENST00000643946.1:c.4629C>T	ENSP00000495927.1:p.Ser1543=
ENST00000644043.1:c.4575C>T	ENSP00000496262.1:p.Ser1525=
ENST00000644278.1:n.186C>T
ENST00000644329.1:c.4503C>T	ENSP00000496611.1:p.Ser1501=
ENST00000644335.1:c.4500C>T	ENSP00000496317.1:p.Ser1500=
ENST00000644399.1:c.4625C>T
ENST00000644417.2:c.*5217C>T	ENSP00000493912.2:n.*5217C>T
ENST00000645024.1:n.2788C>T
ENST00000646388.1:c.4698C>T	ENSP00000495921.1:p.Ser1566=
ENST00000646464.2:c.*7453C>T	ENSP00000496610.2:n.*7453C>T
ENST00000646634.1:n.3519C>T
ENST00000646674.1:n.1956C>T
ENST00000647042.1:n.1927C>T
ENST00000647180.1:n.1817C>T
XM_005255529.3:c.4575C>T	XP_005255586.2:p.Ser1525=
XM_005255531.3:c.4506C>T	XP_005255588.2:p.Ser1502=
XM_005255531.4:c.4506C>T	XP_005255588.2:p.Ser1502=
XM_011522636.1:c.4758C>T	XP_011520938.1:p.Ser1586=
XM_011522636.2:c.4758C>T	XP_011520938.1:p.Ser1586=
XM_011522637.1:c.4755C>T	XP_011520939.1:p.Ser1585=
XM_011522637.2:c.4755C>T	XP_011520939.1:p.Ser1585=
XM_011522638.1:c.4647C>T	XP_011520940.1:p.Ser1549=
XM_011522638.2:c.4920C>T	XP_011520940.2:p.Ser1640=
XM_011522639.1:c.4629C>T	XP_011520941.1:p.Ser1543=
XM_011522639.2:c.4629C>T	XP_011520941.1:p.Ser1543=
XM_011522640.1:c.4626C>T	XP_011520942.1:p.Ser1542=
XM_011522640.2:c.4626C>T	XP_011520942.1:p.Ser1542=
XM_011522641.1:c.4395C>T	XP_011520943.1:p.Ser1465=
XM_017023615.1:c.4701C>T	XP_016879104.1:p.Ser1567=
XM_017023616.1:c.4572C>T	XP_016879105.1:p.Ser1524=
XM_017023617.1:c.4668C>T	XP_016879106.1:p.Ser1556=
XM_017023618.1:c.3414C>T	XP_016879107.1:p.Ser1138=
XM_024450413.1:c.4503C>T	XP_024306181.1:p.Ser1501=