Canonical Allele Identifier: CA2202024583

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086733C= , CM000678.2:g.2086733C=	GRCh38
NC_000016.9:g.2136734C= , CM000678.1:g.2136734C=	GRCh37
NC_000016.8:g.2076735C=	NCBI36
NG_005895.1:g.42428C= , LRG_487:g.42428C=
NG_008617.1:g.56488G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3200C=	ENSP00000455997.2:n.*3200C=
ENST00000642206.2:c.4698C=	ENSP00000495146.2:p.Ala1566=
ENST00000642365.2:c.4848C=	ENSP00000495459.2:p.Ala1616=
ENST00000644417.2:c.*5364C=	ENSP00000493912.2:n.*5364C=
ENST00000646464.2:c.*7600C=	ENSP00000496610.2:n.*7600C=
ENST00000219476.9:c.4851C= MANE Select	ENSP00000219476.3:p.Ala1617=
ENST00000350773.9:c.4782C=	ENSP00000344383.4:p.Ala1594=
ENST00000401874.7:c.4650C=	ENSP00000384468.2:p.Ala1550=
ENST00000568454.6:c.4683C=	ENSP00000454487.1:p.Ala1561=
ENST00000569110.2:c.1074C=
ENST00000569930.2:n.2733C=
ENST00000642365.1:c.3505C=
ENST00000642561.1:c.4722C=	ENSP00000495099.1:p.Ala1574=
ENST00000642728.1:n.1033C=
ENST00000642791.1:n.448C=
ENST00000642797.1:c.4653C=	ENSP00000493846.1:p.Ala1551=
ENST00000642936.1:c.4719C=	ENSP00000494514.1:p.Ala1573=
ENST00000643088.1:c.4644C=	ENSP00000494747.1:p.Ala1548=
ENST00000643177.1:n.865C=
ENST00000643426.1:n.2499C=
ENST00000643946.1:c.4776C=	ENSP00000495927.1:p.Ala1592=
ENST00000644043.1:c.4722C=	ENSP00000496262.1:p.Ala1574=
ENST00000644278.1:n.333C=
ENST00000644329.1:c.4650C=	ENSP00000496611.1:p.Ala1550=
ENST00000644335.1:c.4647C=	ENSP00000496317.1:p.Ala1549=
ENST00000644399.1:c.4772C=
ENST00000645024.1:n.2935C=
ENST00000646388.1:c.4845C=	ENSP00000495921.1:p.Ala1615=
ENST00000646557.1:n.12C=
ENST00000646634.1:n.3666C=
ENST00000646674.1:n.2103C=
ENST00000647042.1:n.2074C=
ENST00000647180.1:n.1964C=
ENST00000219476.7:c.4851C=	ENSP00000219476.3:p.Ala1617=
ENST00000350773.8:c.4782C=	ENSP00000344383.4:p.Ala1594=
ENST00000382538.10:c.4506C=	ENSP00000371978.6:p.Ala1502=
ENST00000401874.6:c.4650C=	ENSP00000384468.2:p.Ala1550=
ENST00000439117.6:c.*4018C=	ENSP00000406980.2:n.*4018C=
ENST00000439673.6:c.4542C=	ENSP00000399232.2:p.Ala1514=
ENST00000497886.5:n.2608-34C=
ENST00000568454.5:c.4683C=	ENSP00000454487.1:p.Ala1561=
ENST00000569110.1:c.1033C=
ENST00000569930.1:n.1966C=
NM_000548.3:c.4851C= , LRG_487t1:c.4851C=	NP_000539.2:p.Ala1617=
NM_001077183.1:c.4650C=	NP_001070651.1:p.Ala1550=
NM_001114382.1:c.4782C=	NP_001107854.1:p.Ala1594=
XM_005255529.3:c.4722C=	XP_005255586.2:p.Ala1574=
XM_005255531.3:c.4653C=	XP_005255588.2:p.Ala1551=
XM_011522636.1:c.4905C=	XP_011520938.1:p.Ala1635=
XM_011522637.1:c.4902C=	XP_011520939.1:p.Ala1634=
XM_011522638.1:c.4794C=	XP_011520940.1:p.Ala1598=
XM_011522639.1:c.4776C=	XP_011520941.1:p.Ala1592=
XM_011522640.1:c.4773C=	XP_011520942.1:p.Ala1591=
XM_011522641.1:c.4542C=	XP_011520943.1:p.Ala1514=
NM_000548.4:c.4851C=	NP_000539.2:p.Ala1617=
NM_001077183.2:c.4650C=	NP_001070651.1:p.Ala1550=
NM_001114382.2:c.4782C=	NP_001107854.1:p.Ala1594=
NM_001318827.1:c.4542C=	NP_001305756.1:p.Ala1514=
NM_001318829.1:c.4506C=	NP_001305758.1:p.Ala1502=
NM_001318831.1:c.4119C=	NP_001305760.1:p.Ala1373=
NM_001318832.1:c.4683C=	NP_001305761.1:p.Ala1561=
NM_001363528.1:c.4653C=	NP_001350457.1:p.Ala1551=
NM_021055.2:c.4722C=	NP_066399.2:p.Ala1574=
XM_005255531.4:c.4653C=	XP_005255588.2:p.Ala1551=
XM_011522636.2:c.4905C=	XP_011520938.1:p.Ala1635=
XM_011522637.2:c.4902C=	XP_011520939.1:p.Ala1634=
XM_011522638.2:c.5067C=	XP_011520940.2:p.Ala1689=
XM_011522639.2:c.4776C=	XP_011520941.1:p.Ala1592=
XM_011522640.2:c.4773C=	XP_011520942.1:p.Ala1591=
XM_017023615.1:c.4848C=	XP_016879104.1:p.Ala1616=
XM_017023616.1:c.4719C=	XP_016879105.1:p.Ala1573=
XM_017023617.1:c.4815C=	XP_016879106.1:p.Ala1605=
XM_017023618.1:c.3561C=	XP_016879107.1:p.Ala1187=
XM_024450413.1:c.4650C=	XP_024306181.1:p.Ala1550=
NM_000548.5:c.4851C= MANE Select	NP_000539.2:p.Ala1617=
NM_001370404.1:c.4719C=	NP_001357333.1:p.Ala1573=
NM_001370405.1:c.4722C=	NP_001357334.1:p.Ala1574=
NM_001077183.3:c.4650C=	NP_001070651.1:p.Ala1550=
NM_001114382.3:c.4782C=	NP_001107854.1:p.Ala1594=
NM_001318827.2:c.4542C=	NP_001305756.1:p.Ala1514=
NM_001318829.2:c.4506C=	NP_001305758.1:p.Ala1502=
NM_001318831.2:c.4119C=	NP_001305760.1:p.Ala1373=
NM_001318832.2:c.4683C=	NP_001305761.1:p.Ala1561=
NM_001363528.2:c.4653C=	NP_001350457.1:p.Ala1551=
NM_021055.3:c.4722C=	NP_066399.2:p.Ala1574=