Canonical Allele Identifier: CA021000

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49464
• ClinVar RCV Id: RCV000042724 ; RCV001508405 ; RCV001852888 ; RCV003162357
• dbSNP Id: rs45517369
• MyVariant Identifiers: chr16:g.2136314G>A (hg19) ; chr16:g.2086313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086313G>A , CM000678.2:g.2086313G>A	GRCh38
NC_000016.9:g.2136314G>A , CM000678.1:g.2136314G>A	GRCh37
NC_000016.8:g.2076315G>A	NCBI36
NG_005895.1:g.42008G>A , LRG_487:g.42008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3132G>A	ENSP00000455997.2:n.*3132G>A
ENST00000642206.2:c.4630G>A	ENSP00000495146.2:p.Gly1544Arg
ENST00000642365.2:c.4780G>A	ENSP00000495459.2:p.Gly1594Arg
ENST00000644417.2:c.*5296G>A	ENSP00000493912.2:n.*5296G>A
ENST00000646464.2:c.*7532G>A	ENSP00000496610.2:n.*7532G>A
ENST00000219476.9:c.4783G>A MANE Select	ENSP00000219476.3:p.Gly1595Arg
ENST00000350773.9:c.4714G>A	ENSP00000344383.4:p.Gly1572Arg
ENST00000401874.7:c.4582G>A	ENSP00000384468.2:p.Gly1528Arg
ENST00000568454.6:c.4615G>A	ENSP00000454487.1:p.Gly1539Arg
ENST00000569110.2:c.1006G>A
ENST00000569930.2:n.2665G>A
ENST00000642365.1:c.3437G>A
ENST00000642561.1:c.4654G>A	ENSP00000495099.1:p.Gly1552Arg
ENST00000642728.1:n.965G>A
ENST00000642791.1:n.380G>A
ENST00000642797.1:c.4585G>A	ENSP00000493846.1:p.Gly1529Arg
ENST00000642936.1:c.4651G>A	ENSP00000494514.1:p.Gly1551Arg
ENST00000643088.1:c.4576G>A	ENSP00000494747.1:p.Gly1526Arg
ENST00000643177.1:n.797G>A
ENST00000643426.1:n.2431G>A
ENST00000643946.1:c.4708G>A	ENSP00000495927.1:p.Gly1570Arg
ENST00000644043.1:c.4654G>A	ENSP00000496262.1:p.Gly1552Arg
ENST00000644278.1:n.265G>A
ENST00000644329.1:c.4582G>A	ENSP00000496611.1:p.Gly1528Arg
ENST00000644335.1:c.4579G>A	ENSP00000496317.1:p.Gly1527Arg
ENST00000644399.1:c.4704G>A
ENST00000645024.1:n.2867G>A
ENST00000646388.1:c.4777G>A	ENSP00000495921.1:p.Gly1593Arg
ENST00000646634.1:n.3598G>A
ENST00000646674.1:n.2035G>A
ENST00000647042.1:n.2006G>A
ENST00000647180.1:n.1896G>A
ENST00000219476.7:c.4783G>A	ENSP00000219476.3:p.Gly1595Arg
ENST00000350773.8:c.4714G>A	ENSP00000344383.4:p.Gly1572Arg
ENST00000382538.10:c.4438G>A	ENSP00000371978.6:p.Gly1480Arg
ENST00000401874.6:c.4582G>A	ENSP00000384468.2:p.Gly1528Arg
ENST00000439117.6:c.*3950G>A	ENSP00000406980.2:n.*3950G>A
ENST00000439673.6:c.4474G>A	ENSP00000399232.2:p.Gly1492Arg
ENST00000497886.5:n.2541G>A
ENST00000568454.5:c.4615G>A	ENSP00000454487.1:p.Gly1539Arg
ENST00000569110.1:c.965G>A
ENST00000569930.1:n.1898G>A
NM_000548.3:c.4783G>A , LRG_487t1:c.4783G>A	NP_000539.2:p.Gly1595Arg
NM_001077183.1:c.4582G>A	NP_001070651.1:p.Gly1528Arg
NM_001114382.1:c.4714G>A	NP_001107854.1:p.Gly1572Arg
XM_005255529.3:c.4654G>A	XP_005255586.2:p.Gly1552Arg
XM_005255531.3:c.4585G>A	XP_005255588.2:p.Gly1529Arg
XM_011522636.1:c.4837G>A	XP_011520938.1:p.Gly1613Arg
XM_011522637.1:c.4834G>A	XP_011520939.1:p.Gly1612Arg
XM_011522638.1:c.4726G>A	XP_011520940.1:p.Gly1576Arg
XM_011522639.1:c.4708G>A	XP_011520941.1:p.Gly1570Arg
XM_011522640.1:c.4705G>A	XP_011520942.1:p.Gly1569Arg
XM_011522641.1:c.4474G>A	XP_011520943.1:p.Gly1492Arg
NM_000548.4:c.4783G>A	NP_000539.2:p.Gly1595Arg
NM_001077183.2:c.4582G>A	NP_001070651.1:p.Gly1528Arg
NM_001114382.2:c.4714G>A	NP_001107854.1:p.Gly1572Arg
NM_001318827.1:c.4474G>A	NP_001305756.1:p.Gly1492Arg
NM_001318829.1:c.4438G>A	NP_001305758.1:p.Gly1480Arg
NM_001318831.1:c.4051G>A	NP_001305760.1:p.Gly1351Arg
NM_001318832.1:c.4615G>A	NP_001305761.1:p.Gly1539Arg
NM_001363528.1:c.4585G>A	NP_001350457.1:p.Gly1529Arg
NM_021055.2:c.4654G>A	NP_066399.2:p.Gly1552Arg
XM_005255531.4:c.4585G>A	XP_005255588.2:p.Gly1529Arg
XM_011522636.2:c.4837G>A	XP_011520938.1:p.Gly1613Arg
XM_011522637.2:c.4834G>A	XP_011520939.1:p.Gly1612Arg
XM_011522638.2:c.4999G>A	XP_011520940.2:p.Gly1667Arg
XM_011522639.2:c.4708G>A	XP_011520941.1:p.Gly1570Arg
XM_011522640.2:c.4705G>A	XP_011520942.1:p.Gly1569Arg
XM_017023615.1:c.4780G>A	XP_016879104.1:p.Gly1594Arg
XM_017023616.1:c.4651G>A	XP_016879105.1:p.Gly1551Arg
XM_017023617.1:c.4747G>A	XP_016879106.1:p.Gly1583Arg
XM_017023618.1:c.3493G>A	XP_016879107.1:p.Gly1165Arg
XM_024450413.1:c.4582G>A	XP_024306181.1:p.Gly1528Arg
NM_000548.5:c.4783G>A MANE Select	NP_000539.2:p.Gly1595Arg
NM_001370404.1:c.4651G>A	NP_001357333.1:p.Gly1551Arg
NM_001370405.1:c.4654G>A	NP_001357334.1:p.Gly1552Arg
NM_001077183.3:c.4582G>A	NP_001070651.1:p.Gly1528Arg
NM_001114382.3:c.4714G>A	NP_001107854.1:p.Gly1572Arg
NM_001318827.2:c.4474G>A	NP_001305756.1:p.Gly1492Arg
NM_001318829.2:c.4438G>A	NP_001305758.1:p.Gly1480Arg
NM_001318831.2:c.4051G>A	NP_001305760.1:p.Gly1351Arg
NM_001318832.2:c.4615G>A	NP_001305761.1:p.Gly1539Arg
NM_001363528.2:c.4585G>A	NP_001350457.1:p.Gly1529Arg
NM_021055.3:c.4654G>A	NP_066399.2:p.Gly1552Arg