Canonical Allele Identifier: CA054368

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825528
• ClinVar RCV Id: RCV001023695 ; RCV002067666 ; RCV002481831
• dbSNP Id: rs753336580
• ExAC: 16:2138260 C / T
• gnomAD v2: 16-2138260-C-T
• gnomAD v3: 16-2088259-C-T
• gnomAD v4: 16-2088259-C-T
• MyVariant Identifiers: chr16:g.2138260C>T (hg19) ; chr16:g.2088259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088259C>T , CM000678.2:g.2088259C>T	GRCh38
NC_000016.9:g.2138260C>T , CM000678.1:g.2138260C>T	GRCh37
NC_000016.8:g.2078261C>T	NCBI36
NG_005895.1:g.43954C>T , LRG_487:g.43954C>T
NG_008617.1:g.54962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3542C>T	ENSP00000455997.2:n.*3542C>T
ENST00000642206.2:c.5040C>T	ENSP00000495146.2:p.Asn1680=
ENST00000642365.2:c.5190C>T	ENSP00000495459.2:p.Asn1730=
ENST00000644417.2:c.*5706C>T	ENSP00000493912.2:n.*5706C>T
ENST00000646464.2:c.*7942C>T	ENSP00000496610.2:n.*7942C>T
ENST00000219476.9:c.5193C>T MANE Select	ENSP00000219476.3:p.Asn1731=
ENST00000350773.9:c.5124C>T	ENSP00000344383.4:p.Asn1708=
ENST00000401874.7:c.4992C>T	ENSP00000384468.2:p.Asn1664=
ENST00000568454.6:c.5025C>T	ENSP00000454487.1:p.Asn1675=
ENST00000569110.2:c.1416C>T
ENST00000569930.2:n.3075C>T
ENST00000642365.1:c.3847C>T
ENST00000642561.1:c.5052C>T	ENSP00000495099.1:p.Asn1684=
ENST00000642791.1:n.790C>T
ENST00000642797.1:c.4995C>T	ENSP00000493846.1:p.Asn1665=
ENST00000642936.1:c.5061C>T	ENSP00000494514.1:p.Asn1687=
ENST00000643088.1:c.4986C>T	ENSP00000494747.1:p.Asn1662=
ENST00000643426.1:n.2841C>T
ENST00000643946.1:c.5118C>T	ENSP00000495927.1:p.Asn1706=
ENST00000644043.1:c.5064C>T	ENSP00000496262.1:p.Asn1688=
ENST00000644329.1:c.5079C>T	ENSP00000496611.1:p.Asn1693=
ENST00000644335.1:c.4989C>T	ENSP00000496317.1:p.Asn1663=
ENST00000644399.1:c.5114C>T
ENST00000645024.1:n.3277C>T
ENST00000646388.1:c.5187C>T	ENSP00000495921.1:p.Asn1729=
ENST00000646634.1:n.4008C>T
ENST00000646674.1:n.2445C>T
ENST00000647042.1:n.2416C>T
ENST00000647180.1:n.2306C>T
ENST00000219476.7:c.5193C>T	ENSP00000219476.3:p.Asn1731=
ENST00000350773.8:c.5124C>T	ENSP00000344383.4:p.Asn1708=
ENST00000382538.10:c.4848C>T	ENSP00000371978.6:p.Asn1616=
ENST00000401874.6:c.4992C>T	ENSP00000384468.2:p.Asn1664=
ENST00000439117.6:c.*4360C>T	ENSP00000406980.2:n.*4360C>T
ENST00000439673.6:c.4884C>T	ENSP00000399232.2:p.Asn1628=
ENST00000497886.5:n.2916C>T
ENST00000568454.5:c.5025C>T	ENSP00000454487.1:p.Asn1675=
ENST00000569110.1:c.1375C>T
ENST00000569930.1:n.2308C>T
NM_000548.3:c.5193C>T , LRG_487t1:c.5193C>T	NP_000539.2:p.Asn1731=
NM_001077183.1:c.4992C>T	NP_001070651.1:p.Asn1664=
NM_001114382.1:c.5124C>T	NP_001107854.1:p.Asn1708=
XM_005255529.3:c.5064C>T	XP_005255586.2:p.Asn1688=
XM_005255531.3:c.4995C>T	XP_005255588.2:p.Asn1665=
XM_011522636.1:c.5247C>T	XP_011520938.1:p.Asn1749=
XM_011522637.1:c.5244C>T	XP_011520939.1:p.Asn1748=
XM_011522638.1:c.5136C>T	XP_011520940.1:p.Asn1712=
XM_011522639.1:c.5118C>T	XP_011520941.1:p.Asn1706=
XM_011522640.1:c.5115C>T	XP_011520942.1:p.Asn1705=
XM_011522641.1:c.4884C>T	XP_011520943.1:p.Asn1628=
NM_000548.4:c.5193C>T	NP_000539.2:p.Asn1731=
NM_001077183.2:c.4992C>T	NP_001070651.1:p.Asn1664=
NM_001114382.2:c.5124C>T	NP_001107854.1:p.Asn1708=
NM_001318827.1:c.4884C>T	NP_001305756.1:p.Asn1628=
NM_001318829.1:c.4848C>T	NP_001305758.1:p.Asn1616=
NM_001318831.1:c.4461C>T	NP_001305760.1:p.Asn1487=
NM_001318832.1:c.5025C>T	NP_001305761.1:p.Asn1675=
NM_001363528.1:c.4995C>T	NP_001350457.1:p.Asn1665=
NM_021055.2:c.5064C>T	NP_066399.2:p.Asn1688=
XM_005255531.4:c.4995C>T	XP_005255588.2:p.Asn1665=
XM_011522636.2:c.5247C>T	XP_011520938.1:p.Asn1749=
XM_011522637.2:c.5244C>T	XP_011520939.1:p.Asn1748=
XM_011522638.2:c.5409C>T	XP_011520940.2:p.Asn1803=
XM_011522639.2:c.5118C>T	XP_011520941.1:p.Asn1706=
XM_011522640.2:c.5115C>T	XP_011520942.1:p.Asn1705=
XM_017023615.1:c.5190C>T	XP_016879104.1:p.Asn1730=
XM_017023616.1:c.5061C>T	XP_016879105.1:p.Asn1687=
XM_017023617.1:c.5157C>T	XP_016879106.1:p.Asn1719=
XM_017023618.1:c.3903C>T	XP_016879107.1:p.Asn1301=
XM_024450413.1:c.5079C>T	XP_024306181.1:p.Asn1693=
NM_000548.5:c.5193C>T MANE Select	NP_000539.2:p.Asn1731=
NM_001370404.1:c.5061C>T	NP_001357333.1:p.Asn1687=
NM_001370405.1:c.5052C>T	NP_001357334.1:p.Asn1684=
NM_001077183.3:c.4992C>T	NP_001070651.1:p.Asn1664=
NM_001114382.3:c.5124C>T	NP_001107854.1:p.Asn1708=
NM_001318827.2:c.4884C>T	NP_001305756.1:p.Asn1628=
NM_001318829.2:c.4848C>T	NP_001305758.1:p.Asn1616=
NM_001318831.2:c.4461C>T	NP_001305760.1:p.Asn1487=
NM_001318832.2:c.5025C>T	NP_001305761.1:p.Asn1675=
NM_001363528.2:c.4995C>T	NP_001350457.1:p.Asn1665=
NM_021055.3:c.5064C>T	NP_066399.2:p.Asn1688=