Canonical Allele Identifier: CA394314456

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138285T>C (hg19) ; chr16:g.2088284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088284T>C , CM000678.2:g.2088284T>C	GRCh38
NC_000016.9:g.2138285T>C , CM000678.1:g.2138285T>C	GRCh37
NC_000016.8:g.2078286T>C	NCBI36
NG_005895.1:g.43979T>C , LRG_487:g.43979T>C
NG_008617.1:g.54937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3567T>C	ENSP00000455997.2:n.*3567T>C
ENST00000642206.2:c.5065T>C	ENSP00000495146.2:p.Trp1689Arg
ENST00000642365.2:c.5215T>C	ENSP00000495459.2:p.Trp1739Arg
ENST00000644417.2:c.*5731T>C	ENSP00000493912.2:n.*5731T>C
ENST00000646464.2:c.*7967T>C	ENSP00000496610.2:n.*7967T>C
ENST00000219476.9:c.5218T>C MANE Select	ENSP00000219476.3:p.Trp1740Arg
ENST00000350773.9:c.5149T>C	ENSP00000344383.4:p.Trp1717Arg
ENST00000401874.7:c.5017T>C	ENSP00000384468.2:p.Trp1673Arg
ENST00000568454.6:c.5050T>C	ENSP00000454487.1:p.Trp1684Arg
ENST00000569110.2:c.1441T>C
ENST00000569930.2:n.3100T>C
ENST00000642365.1:c.3872T>C
ENST00000642561.1:c.5077T>C	ENSP00000495099.1:p.Trp1693Arg
ENST00000642791.1:n.815T>C
ENST00000642797.1:c.5020T>C	ENSP00000493846.1:p.Trp1674Arg
ENST00000642936.1:c.5086T>C	ENSP00000494514.1:p.Trp1696Arg
ENST00000643088.1:c.5011T>C	ENSP00000494747.1:p.Trp1671Arg
ENST00000643426.1:n.2866T>C
ENST00000643946.1:c.5143T>C	ENSP00000495927.1:p.Trp1715Arg
ENST00000644043.1:c.5089T>C	ENSP00000496262.1:p.Trp1697Arg
ENST00000644329.1:c.5104T>C	ENSP00000496611.1:p.Trp1702Arg
ENST00000644335.1:c.5014T>C	ENSP00000496317.1:p.Trp1672Arg
ENST00000644399.1:c.5139T>C
ENST00000645024.1:n.3302T>C
ENST00000646388.1:c.5212T>C	ENSP00000495921.1:p.Trp1738Arg
ENST00000646634.1:n.4033T>C
ENST00000646674.1:n.2470T>C
ENST00000647042.1:n.2441T>C
ENST00000647180.1:n.2331T>C
ENST00000219476.7:c.5218T>C	ENSP00000219476.3:p.Trp1740Arg
ENST00000350773.8:c.5149T>C	ENSP00000344383.4:p.Trp1717Arg
ENST00000382538.10:c.4873T>C	ENSP00000371978.6:p.Trp1625Arg
ENST00000401874.6:c.5017T>C	ENSP00000384468.2:p.Trp1673Arg
ENST00000439117.6:c.*4385T>C	ENSP00000406980.2:n.*4385T>C
ENST00000439673.6:c.4909T>C	ENSP00000399232.2:p.Trp1637Arg
ENST00000497886.5:n.2941T>C
ENST00000568454.5:c.5050T>C	ENSP00000454487.1:p.Trp1684Arg
ENST00000569110.1:c.1400T>C
ENST00000569930.1:n.2333T>C
NM_000548.3:c.5218T>C , LRG_487t1:c.5218T>C	NP_000539.2:p.Trp1740Arg
NM_001077183.1:c.5017T>C	NP_001070651.1:p.Trp1673Arg
NM_001114382.1:c.5149T>C	NP_001107854.1:p.Trp1717Arg
XM_005255529.3:c.5089T>C	XP_005255586.2:p.Trp1697Arg
XM_005255531.3:c.5020T>C	XP_005255588.2:p.Trp1674Arg
XM_011522636.1:c.5272T>C	XP_011520938.1:p.Trp1758Arg
XM_011522637.1:c.5269T>C	XP_011520939.1:p.Trp1757Arg
XM_011522638.1:c.5161T>C	XP_011520940.1:p.Trp1721Arg
XM_011522639.1:c.5143T>C	XP_011520941.1:p.Trp1715Arg
XM_011522640.1:c.5140T>C	XP_011520942.1:p.Trp1714Arg
XM_011522641.1:c.4909T>C	XP_011520943.1:p.Trp1637Arg
NM_000548.4:c.5218T>C	NP_000539.2:p.Trp1740Arg
NM_001077183.2:c.5017T>C	NP_001070651.1:p.Trp1673Arg
NM_001114382.2:c.5149T>C	NP_001107854.1:p.Trp1717Arg
NM_001318827.1:c.4909T>C	NP_001305756.1:p.Trp1637Arg
NM_001318829.1:c.4873T>C	NP_001305758.1:p.Trp1625Arg
NM_001318831.1:c.4486T>C	NP_001305760.1:p.Trp1496Arg
NM_001318832.1:c.5050T>C	NP_001305761.1:p.Trp1684Arg
NM_001363528.1:c.5020T>C	NP_001350457.1:p.Trp1674Arg
NM_021055.2:c.5089T>C	NP_066399.2:p.Trp1697Arg
XM_005255531.4:c.5020T>C	XP_005255588.2:p.Trp1674Arg
XM_011522636.2:c.5272T>C	XP_011520938.1:p.Trp1758Arg
XM_011522637.2:c.5269T>C	XP_011520939.1:p.Trp1757Arg
XM_011522638.2:c.5434T>C	XP_011520940.2:p.Trp1812Arg
XM_011522639.2:c.5143T>C	XP_011520941.1:p.Trp1715Arg
XM_011522640.2:c.5140T>C	XP_011520942.1:p.Trp1714Arg
XM_017023615.1:c.5215T>C	XP_016879104.1:p.Trp1739Arg
XM_017023616.1:c.5086T>C	XP_016879105.1:p.Trp1696Arg
XM_017023617.1:c.5182T>C	XP_016879106.1:p.Trp1728Arg
XM_017023618.1:c.3928T>C	XP_016879107.1:p.Trp1310Arg
XM_024450413.1:c.5104T>C	XP_024306181.1:p.Trp1702Arg
NM_000548.5:c.5218T>C MANE Select	NP_000539.2:p.Trp1740Arg
NM_001370404.1:c.5086T>C	NP_001357333.1:p.Trp1696Arg
NM_001370405.1:c.5077T>C	NP_001357334.1:p.Trp1693Arg
NM_001077183.3:c.5017T>C	NP_001070651.1:p.Trp1673Arg
NM_001114382.3:c.5149T>C	NP_001107854.1:p.Trp1717Arg
NM_001318827.2:c.4909T>C	NP_001305756.1:p.Trp1637Arg
NM_001318829.2:c.4873T>C	NP_001305758.1:p.Trp1625Arg
NM_001318831.2:c.4486T>C	NP_001305760.1:p.Trp1496Arg
NM_001318832.2:c.5050T>C	NP_001305761.1:p.Trp1684Arg
NM_001363528.2:c.5020T>C	NP_001350457.1:p.Trp1674Arg
NM_021055.3:c.5089T>C	NP_066399.2:p.Trp1697Arg