Canonical Allele Identifier: CA394315149

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138462G>T (hg19) ; chr16:g.2088461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088461G>T , CM000678.2:g.2088461G>T	GRCh38
NC_000016.9:g.2138462G>T , CM000678.1:g.2138462G>T	GRCh37
NC_000016.8:g.2078463G>T	NCBI36
NG_005895.1:g.44156G>T , LRG_487:g.44156G>T
NG_008617.1:g.54760C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3624G>T	ENSP00000455997.2:n.*3624G>T
ENST00000642206.2:c.5122G>T	ENSP00000495146.2:p.Ala1708Ser
ENST00000642365.2:c.5272G>T	ENSP00000495459.2:p.Ala1758Ser
ENST00000644417.2:c.*5788G>T	ENSP00000493912.2:n.*5788G>T
ENST00000646464.2:c.*8024G>T	ENSP00000496610.2:n.*8024G>T
ENST00000219476.9:c.5275G>T MANE Select	ENSP00000219476.3:p.Ala1759Ser
ENST00000350773.9:c.5206G>T	ENSP00000344383.4:p.Ala1736Ser
ENST00000401874.7:c.5074G>T	ENSP00000384468.2:p.Ala1692Ser
ENST00000568454.6:c.5107G>T	ENSP00000454487.1:p.Ala1703Ser
ENST00000569110.2:c.1498G>T
ENST00000569930.2:n.3157G>T
ENST00000642365.1:c.3929G>T
ENST00000642561.1:c.5134G>T	ENSP00000495099.1:p.Ala1712Ser
ENST00000642791.1:n.872G>T
ENST00000642797.1:c.5077G>T	ENSP00000493846.1:p.Ala1693Ser
ENST00000642936.1:c.5143G>T	ENSP00000494514.1:p.Ala1715Ser
ENST00000643088.1:c.5068G>T	ENSP00000494747.1:p.Ala1690Ser
ENST00000643426.1:n.2923G>T
ENST00000643946.1:c.5200G>T	ENSP00000495927.1:p.Ala1734Ser
ENST00000644043.1:c.5146G>T	ENSP00000496262.1:p.Ala1716Ser
ENST00000644329.1:c.5161G>T	ENSP00000496611.1:p.Ala1721Ser
ENST00000644335.1:c.5071G>T	ENSP00000496317.1:p.Ala1691Ser
ENST00000644399.1:c.5196G>T
ENST00000645024.1:n.3359G>T
ENST00000646388.1:c.5269G>T	ENSP00000495921.1:p.Ala1757Ser
ENST00000646634.1:n.4090G>T
ENST00000646674.1:n.2527G>T
ENST00000647042.1:n.2498G>T
ENST00000647180.1:n.2388G>T
ENST00000219476.7:c.5275G>T	ENSP00000219476.3:p.Ala1759Ser
ENST00000350773.8:c.5206G>T	ENSP00000344383.4:p.Ala1736Ser
ENST00000382538.10:c.4930G>T	ENSP00000371978.6:p.Ala1644Ser
ENST00000401874.6:c.5074G>T	ENSP00000384468.2:p.Ala1692Ser
ENST00000439117.6:c.*4442G>T	ENSP00000406980.2:n.*4442G>T
ENST00000439673.6:c.4966G>T	ENSP00000399232.2:p.Ala1656Ser
ENST00000497886.5:n.2998G>T
ENST00000568454.5:c.5107G>T	ENSP00000454487.1:p.Ala1703Ser
ENST00000569110.1:c.1457G>T
ENST00000569930.1:n.2390G>T
NM_000548.3:c.5275G>T , LRG_487t1:c.5275G>T	NP_000539.2:p.Ala1759Ser
NM_001077183.1:c.5074G>T	NP_001070651.1:p.Ala1692Ser
NM_001114382.1:c.5206G>T	NP_001107854.1:p.Ala1736Ser
XM_005255529.3:c.5146G>T	XP_005255586.2:p.Ala1716Ser
XM_005255531.3:c.5077G>T	XP_005255588.2:p.Ala1693Ser
XM_011522636.1:c.5329G>T	XP_011520938.1:p.Ala1777Ser
XM_011522637.1:c.5326G>T	XP_011520939.1:p.Ala1776Ser
XM_011522638.1:c.5218G>T	XP_011520940.1:p.Ala1740Ser
XM_011522639.1:c.5200G>T	XP_011520941.1:p.Ala1734Ser
XM_011522640.1:c.5197G>T	XP_011520942.1:p.Ala1733Ser
XM_011522641.1:c.4966G>T	XP_011520943.1:p.Ala1656Ser
NM_000548.4:c.5275G>T	NP_000539.2:p.Ala1759Ser
NM_001077183.2:c.5074G>T	NP_001070651.1:p.Ala1692Ser
NM_001114382.2:c.5206G>T	NP_001107854.1:p.Ala1736Ser
NM_001318827.1:c.4966G>T	NP_001305756.1:p.Ala1656Ser
NM_001318829.1:c.4930G>T	NP_001305758.1:p.Ala1644Ser
NM_001318831.1:c.4543G>T	NP_001305760.1:p.Ala1515Ser
NM_001318832.1:c.5107G>T	NP_001305761.1:p.Ala1703Ser
NM_001363528.1:c.5077G>T	NP_001350457.1:p.Ala1693Ser
NM_021055.2:c.5146G>T	NP_066399.2:p.Ala1716Ser
XM_005255531.4:c.5077G>T	XP_005255588.2:p.Ala1693Ser
XM_011522636.2:c.5329G>T	XP_011520938.1:p.Ala1777Ser
XM_011522637.2:c.5326G>T	XP_011520939.1:p.Ala1776Ser
XM_011522638.2:c.5491G>T	XP_011520940.2:p.Ala1831Ser
XM_011522639.2:c.5200G>T	XP_011520941.1:p.Ala1734Ser
XM_011522640.2:c.5197G>T	XP_011520942.1:p.Ala1733Ser
XM_017023615.1:c.5272G>T	XP_016879104.1:p.Ala1758Ser
XM_017023616.1:c.5143G>T	XP_016879105.1:p.Ala1715Ser
XM_017023617.1:c.5239G>T	XP_016879106.1:p.Ala1747Ser
XM_017023618.1:c.3985G>T	XP_016879107.1:p.Ala1329Ser
XM_024450413.1:c.5161G>T	XP_024306181.1:p.Ala1721Ser
NM_000548.5:c.5275G>T MANE Select	NP_000539.2:p.Ala1759Ser
NM_001370404.1:c.5143G>T	NP_001357333.1:p.Ala1715Ser
NM_001370405.1:c.5134G>T	NP_001357334.1:p.Ala1712Ser
NM_001077183.3:c.5074G>T	NP_001070651.1:p.Ala1692Ser
NM_001114382.3:c.5206G>T	NP_001107854.1:p.Ala1736Ser
NM_001318827.2:c.4966G>T	NP_001305756.1:p.Ala1656Ser
NM_001318829.2:c.4930G>T	NP_001305758.1:p.Ala1644Ser
NM_001318831.2:c.4543G>T	NP_001305760.1:p.Ala1515Ser
NM_001318832.2:c.5107G>T	NP_001305761.1:p.Ala1703Ser
NM_001363528.2:c.5077G>T	NP_001350457.1:p.Ala1693Ser
NM_021055.3:c.5146G>T	NP_066399.2:p.Ala1716Ser