Canonical Allele Identifier: CA021078

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49841
• ClinVar RCV Id: RCV000043107 ; RCV001047663
• dbSNP Id: rs45517372
• MyVariant Identifiers: chr16:g.2136361G>A (hg19) ; chr16:g.2086360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086360G>A , CM000678.2:g.2086360G>A	GRCh38
NC_000016.9:g.2136361G>A , CM000678.1:g.2136361G>A	GRCh37
NC_000016.8:g.2076362G>A	NCBI36
NG_005895.1:g.42055G>A , LRG_487:g.42055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3179G>A	ENSP00000455997.2:n.*3179G>A
ENST00000642206.2:c.4677G>A	ENSP00000495146.2:p.Trp1559Ter
ENST00000642365.2:c.4827G>A	ENSP00000495459.2:p.Trp1609Ter
ENST00000644417.2:c.*5343G>A	ENSP00000493912.2:n.*5343G>A
ENST00000646464.2:c.*7579G>A	ENSP00000496610.2:n.*7579G>A
ENST00000219476.9:c.4830G>A MANE Select	ENSP00000219476.3:p.Trp1610Ter
ENST00000350773.9:c.4761G>A	ENSP00000344383.4:p.Trp1587Ter
ENST00000401874.7:c.4629G>A	ENSP00000384468.2:p.Trp1543Ter
ENST00000568454.6:c.4662G>A	ENSP00000454487.1:p.Trp1554Ter
ENST00000569110.2:c.1053G>A
ENST00000569930.2:n.2712G>A
ENST00000642365.1:c.3484G>A
ENST00000642561.1:c.4701G>A	ENSP00000495099.1:p.Trp1567Ter
ENST00000642728.1:n.1012G>A
ENST00000642791.1:n.427G>A
ENST00000642797.1:c.4632G>A	ENSP00000493846.1:p.Trp1544Ter
ENST00000642936.1:c.4698G>A	ENSP00000494514.1:p.Trp1566Ter
ENST00000643088.1:c.4623G>A	ENSP00000494747.1:p.Trp1541Ter
ENST00000643177.1:n.844G>A
ENST00000643426.1:n.2478G>A
ENST00000643946.1:c.4755G>A	ENSP00000495927.1:p.Trp1585Ter
ENST00000644043.1:c.4701G>A	ENSP00000496262.1:p.Trp1567Ter
ENST00000644278.1:n.312G>A
ENST00000644329.1:c.4629G>A	ENSP00000496611.1:p.Trp1543Ter
ENST00000644335.1:c.4626G>A	ENSP00000496317.1:p.Trp1542Ter
ENST00000644399.1:c.4751G>A
ENST00000645024.1:n.2914G>A
ENST00000646388.1:c.4824G>A	ENSP00000495921.1:p.Trp1608Ter
ENST00000646634.1:n.3645G>A
ENST00000646674.1:n.2082G>A
ENST00000647042.1:n.2053G>A
ENST00000647180.1:n.1943G>A
ENST00000219476.7:c.4830G>A	ENSP00000219476.3:p.Trp1610Ter
ENST00000350773.8:c.4761G>A	ENSP00000344383.4:p.Trp1587Ter
ENST00000382538.10:c.4485G>A	ENSP00000371978.6:p.Trp1495Ter
ENST00000401874.6:c.4629G>A	ENSP00000384468.2:p.Trp1543Ter
ENST00000439117.6:c.*3997G>A	ENSP00000406980.2:n.*3997G>A
ENST00000439673.6:c.4521G>A	ENSP00000399232.2:p.Trp1507Ter
ENST00000497886.5:n.2588G>A
ENST00000568454.5:c.4662G>A	ENSP00000454487.1:p.Trp1554Ter
ENST00000569110.1:c.1012G>A
ENST00000569930.1:n.1945G>A
NM_000548.3:c.4830G>A , LRG_487t1:c.4830G>A	NP_000539.2:p.Trp1610Ter
NM_001077183.1:c.4629G>A	NP_001070651.1:p.Trp1543Ter
NM_001114382.1:c.4761G>A	NP_001107854.1:p.Trp1587Ter
XM_005255529.3:c.4701G>A	XP_005255586.2:p.Trp1567Ter
XM_005255531.3:c.4632G>A	XP_005255588.2:p.Trp1544Ter
XM_011522636.1:c.4884G>A	XP_011520938.1:p.Trp1628Ter
XM_011522637.1:c.4881G>A	XP_011520939.1:p.Trp1627Ter
XM_011522638.1:c.4773G>A	XP_011520940.1:p.Trp1591Ter
XM_011522639.1:c.4755G>A	XP_011520941.1:p.Trp1585Ter
XM_011522640.1:c.4752G>A	XP_011520942.1:p.Trp1584Ter
XM_011522641.1:c.4521G>A	XP_011520943.1:p.Trp1507Ter
NM_000548.4:c.4830G>A	NP_000539.2:p.Trp1610Ter
NM_001077183.2:c.4629G>A	NP_001070651.1:p.Trp1543Ter
NM_001114382.2:c.4761G>A	NP_001107854.1:p.Trp1587Ter
NM_001318827.1:c.4521G>A	NP_001305756.1:p.Trp1507Ter
NM_001318829.1:c.4485G>A	NP_001305758.1:p.Trp1495Ter
NM_001318831.1:c.4098G>A	NP_001305760.1:p.Trp1366Ter
NM_001318832.1:c.4662G>A	NP_001305761.1:p.Trp1554Ter
NM_001363528.1:c.4632G>A	NP_001350457.1:p.Trp1544Ter
NM_021055.2:c.4701G>A	NP_066399.2:p.Trp1567Ter
XM_005255531.4:c.4632G>A	XP_005255588.2:p.Trp1544Ter
XM_011522636.2:c.4884G>A	XP_011520938.1:p.Trp1628Ter
XM_011522637.2:c.4881G>A	XP_011520939.1:p.Trp1627Ter
XM_011522638.2:c.5046G>A	XP_011520940.2:p.Trp1682Ter
XM_011522639.2:c.4755G>A	XP_011520941.1:p.Trp1585Ter
XM_011522640.2:c.4752G>A	XP_011520942.1:p.Trp1584Ter
XM_017023615.1:c.4827G>A	XP_016879104.1:p.Trp1609Ter
XM_017023616.1:c.4698G>A	XP_016879105.1:p.Trp1566Ter
XM_017023617.1:c.4794G>A	XP_016879106.1:p.Trp1598Ter
XM_017023618.1:c.3540G>A	XP_016879107.1:p.Trp1180Ter
XM_024450413.1:c.4629G>A	XP_024306181.1:p.Trp1543Ter
NM_000548.5:c.4830G>A MANE Select	NP_000539.2:p.Trp1610Ter
NM_001370404.1:c.4698G>A	NP_001357333.1:p.Trp1566Ter
NM_001370405.1:c.4701G>A	NP_001357334.1:p.Trp1567Ter
NM_001077183.3:c.4629G>A	NP_001070651.1:p.Trp1543Ter
NM_001114382.3:c.4761G>A	NP_001107854.1:p.Trp1587Ter
NM_001318827.2:c.4521G>A	NP_001305756.1:p.Trp1507Ter
NM_001318829.2:c.4485G>A	NP_001305758.1:p.Trp1495Ter
NM_001318831.2:c.4098G>A	NP_001305760.1:p.Trp1366Ter
NM_001318832.2:c.4662G>A	NP_001305761.1:p.Trp1554Ter
NM_001363528.2:c.4632G>A	NP_001350457.1:p.Trp1544Ter
NM_021055.3:c.4701G>A	NP_066399.2:p.Trp1567Ter