Canonical Allele Identifier: CA492957798

Gene: TSC2

Linked Data

• dbSNP Id: rs2151549833
• MyVariant Identifiers: chr16:g.2135233A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085232A>C , CM000678.2:g.2085232A>C	GRCh38
NC_000016.9:g.2135233A>C , CM000678.1:g.2135233A>C	GRCh37
NC_000016.8:g.2075234A>C	NCBI36
NG_005895.1:g.40927A>C , LRG_487:g.40927A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2921A>C	ENSP00000455997.2:n.*2921A>C
ENST00000642206.2:c.4419A>C	ENSP00000495146.2:p.Ser1473=
ENST00000642365.2:c.4569A>C	ENSP00000495459.2:p.Ser1523=
ENST00000644417.2:c.*4952A>C	ENSP00000493912.2:n.*4952A>C
ENST00000646464.2:c.*7321A>C	ENSP00000496610.2:n.*7321A>C
ENST00000219476.9:c.4572A>C MANE Select	ENSP00000219476.3:p.Ser1524=
ENST00000350773.9:c.4503A>C	ENSP00000344383.4:p.Ser1501=
ENST00000401874.7:c.4371A>C	ENSP00000384468.2:p.Ser1457=
ENST00000568454.6:c.4404A>C	ENSP00000454487.1:p.Ser1468=
ENST00000569110.2:c.795A>C
ENST00000569930.2:n.2454A>C
ENST00000642365.1:c.3226A>C
ENST00000642561.1:c.4443A>C	ENSP00000495099.1:p.Ser1481=
ENST00000642728.1:n.754A>C
ENST00000642791.1:n.169A>C
ENST00000642797.1:c.4374A>C	ENSP00000493846.1:p.Ser1458=
ENST00000642936.1:c.4440A>C	ENSP00000494514.1:p.Ser1480=
ENST00000643088.1:c.4369-4A>C	ENSP00000494747.1:n.4369-4A>C
ENST00000643177.1:n.586A>C
ENST00000643426.1:n.2220A>C
ENST00000643946.1:c.4501-4A>C	ENSP00000495927.1:n.4501-4A>C
ENST00000644043.1:c.4443A>C	ENSP00000496262.1:p.Ser1481=
ENST00000644278.1:n.54A>C
ENST00000644329.1:c.4371A>C	ENSP00000496611.1:p.Ser1457=
ENST00000644335.1:c.4372-4A>C	ENSP00000496317.1:n.4372-4A>C
ENST00000644399.1:c.4493A>C
ENST00000645024.1:n.2656A>C
ENST00000646388.1:c.4570-4A>C	ENSP00000495921.1:n.4570-4A>C
ENST00000646634.1:n.3387A>C
ENST00000646674.1:n.1824A>C
ENST00000647042.1:n.1795A>C
ENST00000647180.1:n.1685A>C
ENST00000219476.7:c.4572A>C	ENSP00000219476.3:p.Ser1524=
ENST00000350773.8:c.4503A>C	ENSP00000344383.4:p.Ser1501=
ENST00000382538.10:c.4227A>C	ENSP00000371978.6:p.Ser1409=
ENST00000401874.6:c.4371A>C	ENSP00000384468.2:p.Ser1457=
ENST00000439117.6:c.*3739A>C	ENSP00000406980.2:n.*3739A>C
ENST00000439673.6:c.4263A>C	ENSP00000399232.2:p.Ser1421=
ENST00000497886.5:n.2330A>C
ENST00000568454.5:c.4404A>C	ENSP00000454487.1:p.Ser1468=
ENST00000569110.1:c.754A>C
ENST00000569930.1:n.1687A>C
NM_000548.3:c.4572A>C , LRG_487t1:c.4572A>C	NP_000539.2:p.Ser1524=
NM_001077183.1:c.4371A>C	NP_001070651.1:p.Ser1457=
NM_001114382.1:c.4503A>C	NP_001107854.1:p.Ser1501=
XM_005255529.3:c.4443A>C	XP_005255586.2:p.Ser1481=
XM_005255531.3:c.4374A>C	XP_005255588.2:p.Ser1458=
XM_011522636.1:c.4626A>C	XP_011520938.1:p.Ser1542=
XM_011522637.1:c.4623A>C	XP_011520939.1:p.Ser1541=
XM_011522638.1:c.4515A>C	XP_011520940.1:p.Ser1505=
XM_011522639.1:c.4497A>C	XP_011520941.1:p.Ser1499=
XM_011522640.1:c.4494A>C	XP_011520942.1:p.Ser1498=
XM_011522641.1:c.4263A>C	XP_011520943.1:p.Ser1421=
NM_000548.4:c.4572A>C	NP_000539.2:p.Ser1524=
NM_001077183.2:c.4371A>C	NP_001070651.1:p.Ser1457=
NM_001114382.2:c.4503A>C	NP_001107854.1:p.Ser1501=
NM_001318827.1:c.4263A>C	NP_001305756.1:p.Ser1421=
NM_001318829.1:c.4227A>C	NP_001305758.1:p.Ser1409=
NM_001318831.1:c.3840A>C	NP_001305760.1:p.Ser1280=
NM_001318832.1:c.4404A>C	NP_001305761.1:p.Ser1468=
NM_001363528.1:c.4374A>C	NP_001350457.1:p.Ser1458=
NM_021055.2:c.4443A>C	NP_066399.2:p.Ser1481=
XM_005255531.4:c.4374A>C	XP_005255588.2:p.Ser1458=
XM_011522636.2:c.4626A>C	XP_011520938.1:p.Ser1542=
XM_011522637.2:c.4623A>C	XP_011520939.1:p.Ser1541=
XM_011522638.2:c.4788A>C	XP_011520940.2:p.Ser1596=
XM_011522639.2:c.4497A>C	XP_011520941.1:p.Ser1499=
XM_011522640.2:c.4494A>C	XP_011520942.1:p.Ser1498=
XM_017023615.1:c.4569A>C	XP_016879104.1:p.Ser1523=
XM_017023616.1:c.4440A>C	XP_016879105.1:p.Ser1480=
XM_017023617.1:c.4536A>C	XP_016879106.1:p.Ser1512=
XM_017023618.1:c.3282A>C	XP_016879107.1:p.Ser1094=
XM_024450413.1:c.4371A>C	XP_024306181.1:p.Ser1457=
NM_000548.5:c.4572A>C MANE Select	NP_000539.2:p.Ser1524=
NM_001370404.1:c.4440A>C	NP_001357333.1:p.Ser1480=
NM_001370405.1:c.4443A>C	NP_001357334.1:p.Ser1481=
NM_001077183.3:c.4371A>C	NP_001070651.1:p.Ser1457=
NM_001114382.3:c.4503A>C	NP_001107854.1:p.Ser1501=
NM_001318827.2:c.4263A>C	NP_001305756.1:p.Ser1421=
NM_001318829.2:c.4227A>C	NP_001305758.1:p.Ser1409=
NM_001318831.2:c.3840A>C	NP_001305760.1:p.Ser1280=
NM_001318832.2:c.4404A>C	NP_001305761.1:p.Ser1468=
NM_001363528.2:c.4374A>C	NP_001350457.1:p.Ser1458=
NM_021055.3:c.4443A>C	NP_066399.2:p.Ser1481=