Canonical Allele Identifier: CA022090

Gene: TSC2

Linked Data

• ClinVar Variation Id: 64939
• ClinVar RCV Id: RCV000055142 ; RCV001504949 ; RCV003380407
• dbSNP Id: rs397514955
• gnomAD v3: 16-2088250-C-T
• gnomAD v4: 16-2088250-C-T
• MyVariant Identifiers: chr16:g.2138251C>T (hg19) ; chr16:g.2088250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088250C>T , CM000678.2:g.2088250C>T	GRCh38
NC_000016.9:g.2138251C>T , CM000678.1:g.2138251C>T	GRCh37
NC_000016.8:g.2078252C>T	NCBI36
NG_005895.1:g.43945C>T , LRG_487:g.43945C>T
NG_008617.1:g.54971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3533C>T	ENSP00000455997.2:n.*3533C>T
ENST00000642206.2:c.5031C>T	ENSP00000495146.2:p.Ser1677=
ENST00000642365.2:c.5181C>T	ENSP00000495459.2:p.Ser1727=
ENST00000644417.2:c.*5697C>T	ENSP00000493912.2:n.*5697C>T
ENST00000646464.2:c.*7933C>T	ENSP00000496610.2:n.*7933C>T
ENST00000219476.9:c.5184C>T MANE Select	ENSP00000219476.3:p.Ser1728=
ENST00000350773.9:c.5115C>T	ENSP00000344383.4:p.Ser1705=
ENST00000401874.7:c.4983C>T	ENSP00000384468.2:p.Ser1661=
ENST00000568454.6:c.5016C>T	ENSP00000454487.1:p.Ser1672=
ENST00000569110.2:c.1407C>T
ENST00000569930.2:n.3066C>T
ENST00000642365.1:c.3838C>T
ENST00000642561.1:c.5043C>T	ENSP00000495099.1:p.Ser1681=
ENST00000642791.1:n.781C>T
ENST00000642797.1:c.4986C>T	ENSP00000493846.1:p.Ser1662=
ENST00000642936.1:c.5052C>T	ENSP00000494514.1:p.Ser1684=
ENST00000643088.1:c.4977C>T	ENSP00000494747.1:p.Ser1659=
ENST00000643426.1:n.2832C>T
ENST00000643946.1:c.5109C>T	ENSP00000495927.1:p.Ser1703=
ENST00000644043.1:c.5055C>T	ENSP00000496262.1:p.Ser1685=
ENST00000644329.1:c.5070C>T	ENSP00000496611.1:p.Ser1690=
ENST00000644335.1:c.4980C>T	ENSP00000496317.1:p.Ser1660=
ENST00000644399.1:c.5105C>T
ENST00000645024.1:n.3268C>T
ENST00000646388.1:c.5178C>T	ENSP00000495921.1:p.Ser1726=
ENST00000646634.1:n.3999C>T
ENST00000646674.1:n.2436C>T
ENST00000647042.1:n.2407C>T
ENST00000647180.1:n.2297C>T
ENST00000219476.7:c.5184C>T	ENSP00000219476.3:p.Ser1728=
ENST00000350773.8:c.5115C>T	ENSP00000344383.4:p.Ser1705=
ENST00000382538.10:c.4839C>T	ENSP00000371978.6:p.Ser1613=
ENST00000401874.6:c.4983C>T	ENSP00000384468.2:p.Ser1661=
ENST00000439117.6:c.*4351C>T	ENSP00000406980.2:n.*4351C>T
ENST00000439673.6:c.4875C>T	ENSP00000399232.2:p.Ser1625=
ENST00000497886.5:n.2907C>T
ENST00000568454.5:c.5016C>T	ENSP00000454487.1:p.Ser1672=
ENST00000569110.1:c.1366C>T
ENST00000569930.1:n.2299C>T
NM_000548.3:c.5184C>T , LRG_487t1:c.5184C>T	NP_000539.2:p.Ser1728=
NM_001077183.1:c.4983C>T	NP_001070651.1:p.Ser1661=
NM_001114382.1:c.5115C>T	NP_001107854.1:p.Ser1705=
XM_005255529.3:c.5055C>T	XP_005255586.2:p.Ser1685=
XM_005255531.3:c.4986C>T	XP_005255588.2:p.Ser1662=
XM_011522636.1:c.5238C>T	XP_011520938.1:p.Ser1746=
XM_011522637.1:c.5235C>T	XP_011520939.1:p.Ser1745=
XM_011522638.1:c.5127C>T	XP_011520940.1:p.Ser1709=
XM_011522639.1:c.5109C>T	XP_011520941.1:p.Ser1703=
XM_011522640.1:c.5106C>T	XP_011520942.1:p.Ser1702=
XM_011522641.1:c.4875C>T	XP_011520943.1:p.Ser1625=
NM_000548.4:c.5184C>T	NP_000539.2:p.Ser1728=
NM_001077183.2:c.4983C>T	NP_001070651.1:p.Ser1661=
NM_001114382.2:c.5115C>T	NP_001107854.1:p.Ser1705=
NM_001318827.1:c.4875C>T	NP_001305756.1:p.Ser1625=
NM_001318829.1:c.4839C>T	NP_001305758.1:p.Ser1613=
NM_001318831.1:c.4452C>T	NP_001305760.1:p.Ser1484=
NM_001318832.1:c.5016C>T	NP_001305761.1:p.Ser1672=
NM_001363528.1:c.4986C>T	NP_001350457.1:p.Ser1662=
NM_021055.2:c.5055C>T	NP_066399.2:p.Ser1685=
XM_005255531.4:c.4986C>T	XP_005255588.2:p.Ser1662=
XM_011522636.2:c.5238C>T	XP_011520938.1:p.Ser1746=
XM_011522637.2:c.5235C>T	XP_011520939.1:p.Ser1745=
XM_011522638.2:c.5400C>T	XP_011520940.2:p.Ser1800=
XM_011522639.2:c.5109C>T	XP_011520941.1:p.Ser1703=
XM_011522640.2:c.5106C>T	XP_011520942.1:p.Ser1702=
XM_017023615.1:c.5181C>T	XP_016879104.1:p.Ser1727=
XM_017023616.1:c.5052C>T	XP_016879105.1:p.Ser1684=
XM_017023617.1:c.5148C>T	XP_016879106.1:p.Ser1716=
XM_017023618.1:c.3894C>T	XP_016879107.1:p.Ser1298=
XM_024450413.1:c.5070C>T	XP_024306181.1:p.Ser1690=
NM_000548.5:c.5184C>T MANE Select	NP_000539.2:p.Ser1728=
NM_001370404.1:c.5052C>T	NP_001357333.1:p.Ser1684=
NM_001370405.1:c.5043C>T	NP_001357334.1:p.Ser1681=
NM_001077183.3:c.4983C>T	NP_001070651.1:p.Ser1661=
NM_001114382.3:c.5115C>T	NP_001107854.1:p.Ser1705=
NM_001318827.2:c.4875C>T	NP_001305756.1:p.Ser1625=
NM_001318829.2:c.4839C>T	NP_001305758.1:p.Ser1613=
NM_001318831.2:c.4452C>T	NP_001305760.1:p.Ser1484=
NM_001318832.2:c.5016C>T	NP_001305761.1:p.Ser1672=
NM_001363528.2:c.4986C>T	NP_001350457.1:p.Ser1662=
NM_021055.3:c.5055C>T	NP_066399.2:p.Ser1685=