Canonical Allele Identifier: CA394314174

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468145
• ClinVar RCV Id: RCV000557244 ; RCV000568990
• dbSNP Id: rs753336580
• gnomAD v4: 16-2088259-C-A
• MyVariant Identifiers: chr16:g.2138260C>A (hg19) ; chr16:g.2088259C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3542C>A	ENSP00000455997.2:n.*3542C>A
ENST00000642206.2:c.5040C>A	ENSP00000495146.2:p.Asn1680Lys
ENST00000642365.2:c.5190C>A	ENSP00000495459.2:p.Asn1730Lys
ENST00000644417.2:c.*5706C>A	ENSP00000493912.2:n.*5706C>A
ENST00000646464.2:c.*7942C>A	ENSP00000496610.2:n.*7942C>A
ENST00000219476.9:c.5193C>A MANE Select	ENSP00000219476.3:p.Asn1731Lys
ENST00000350773.9:c.5124C>A	ENSP00000344383.4:p.Asn1708Lys
ENST00000401874.7:c.4992C>A	ENSP00000384468.2:p.Asn1664Lys
ENST00000568454.6:c.5025C>A	ENSP00000454487.1:p.Asn1675Lys
ENST00000569110.2:c.1416C>A
ENST00000569930.2:n.3075C>A
ENST00000642365.1:c.3847C>A
ENST00000642561.1:c.5052C>A	ENSP00000495099.1:p.Asn1684Lys
ENST00000642791.1:n.790C>A
ENST00000642797.1:c.4995C>A	ENSP00000493846.1:p.Asn1665Lys
ENST00000642936.1:c.5061C>A	ENSP00000494514.1:p.Asn1687Lys
ENST00000643088.1:c.4986C>A	ENSP00000494747.1:p.Asn1662Lys
ENST00000643426.1:n.2841C>A
ENST00000643946.1:c.5118C>A	ENSP00000495927.1:p.Asn1706Lys
ENST00000644043.1:c.5064C>A	ENSP00000496262.1:p.Asn1688Lys
ENST00000644329.1:c.5079C>A	ENSP00000496611.1:p.Asn1693Lys
ENST00000644335.1:c.4989C>A	ENSP00000496317.1:p.Asn1663Lys
ENST00000644399.1:c.5114C>A
ENST00000645024.1:n.3277C>A
ENST00000646388.1:c.5187C>A	ENSP00000495921.1:p.Asn1729Lys
ENST00000646634.1:n.4008C>A
ENST00000646674.1:n.2445C>A
ENST00000647042.1:n.2416C>A
ENST00000647180.1:n.2306C>A
ENST00000219476.7:c.5193C>A	ENSP00000219476.3:p.Asn1731Lys
ENST00000350773.8:c.5124C>A	ENSP00000344383.4:p.Asn1708Lys
ENST00000382538.10:c.4848C>A	ENSP00000371978.6:p.Asn1616Lys
ENST00000401874.6:c.4992C>A	ENSP00000384468.2:p.Asn1664Lys
ENST00000439117.6:c.*4360C>A	ENSP00000406980.2:n.*4360C>A
ENST00000439673.6:c.4884C>A	ENSP00000399232.2:p.Asn1628Lys
ENST00000497886.5:n.2916C>A
ENST00000568454.5:c.5025C>A	ENSP00000454487.1:p.Asn1675Lys
ENST00000569110.1:c.1375C>A
ENST00000569930.1:n.2308C>A
NM_000548.3:c.5193C>A , LRG_487t1:c.5193C>A	NP_000539.2:p.Asn1731Lys
NM_001077183.1:c.4992C>A	NP_001070651.1:p.Asn1664Lys
NM_001114382.1:c.5124C>A	NP_001107854.1:p.Asn1708Lys
XM_005255529.3:c.5064C>A	XP_005255586.2:p.Asn1688Lys
XM_005255531.3:c.4995C>A	XP_005255588.2:p.Asn1665Lys
XM_011522636.1:c.5247C>A	XP_011520938.1:p.Asn1749Lys
XM_011522637.1:c.5244C>A	XP_011520939.1:p.Asn1748Lys
XM_011522638.1:c.5136C>A	XP_011520940.1:p.Asn1712Lys
XM_011522639.1:c.5118C>A	XP_011520941.1:p.Asn1706Lys
XM_011522640.1:c.5115C>A	XP_011520942.1:p.Asn1705Lys
XM_011522641.1:c.4884C>A	XP_011520943.1:p.Asn1628Lys
NM_000548.4:c.5193C>A	NP_000539.2:p.Asn1731Lys
NM_001077183.2:c.4992C>A	NP_001070651.1:p.Asn1664Lys
NM_001114382.2:c.5124C>A	NP_001107854.1:p.Asn1708Lys
NM_001318827.1:c.4884C>A	NP_001305756.1:p.Asn1628Lys
NM_001318829.1:c.4848C>A	NP_001305758.1:p.Asn1616Lys
NM_001318831.1:c.4461C>A	NP_001305760.1:p.Asn1487Lys
NM_001318832.1:c.5025C>A	NP_001305761.1:p.Asn1675Lys
NM_001363528.1:c.4995C>A	NP_001350457.1:p.Asn1665Lys
NM_021055.2:c.5064C>A	NP_066399.2:p.Asn1688Lys
XM_005255531.4:c.4995C>A	XP_005255588.2:p.Asn1665Lys
XM_011522636.2:c.5247C>A	XP_011520938.1:p.Asn1749Lys
XM_011522637.2:c.5244C>A	XP_011520939.1:p.Asn1748Lys
XM_011522638.2:c.5409C>A	XP_011520940.2:p.Asn1803Lys
XM_011522639.2:c.5118C>A	XP_011520941.1:p.Asn1706Lys
XM_011522640.2:c.5115C>A	XP_011520942.1:p.Asn1705Lys
XM_017023615.1:c.5190C>A	XP_016879104.1:p.Asn1730Lys
XM_017023616.1:c.5061C>A	XP_016879105.1:p.Asn1687Lys
XM_017023617.1:c.5157C>A	XP_016879106.1:p.Asn1719Lys
XM_017023618.1:c.3903C>A	XP_016879107.1:p.Asn1301Lys
XM_024450413.1:c.5079C>A	XP_024306181.1:p.Asn1693Lys
NM_000548.5:c.5193C>A MANE Select	NP_000539.2:p.Asn1731Lys
NM_001370404.1:c.5061C>A	NP_001357333.1:p.Asn1687Lys
NM_001370405.1:c.5052C>A	NP_001357334.1:p.Asn1684Lys
NM_001077183.3:c.4992C>A	NP_001070651.1:p.Asn1664Lys
NM_001114382.3:c.5124C>A	NP_001107854.1:p.Asn1708Lys
NM_001318827.2:c.4884C>A	NP_001305756.1:p.Asn1628Lys
NM_001318829.2:c.4848C>A	NP_001305758.1:p.Asn1616Lys
NM_001318831.2:c.4461C>A	NP_001305760.1:p.Asn1487Lys
NM_001318832.2:c.5025C>A	NP_001305761.1:p.Asn1675Lys
NM_001363528.2:c.4995C>A	NP_001350457.1:p.Asn1665Lys
NM_021055.3:c.5064C>A	NP_066399.2:p.Asn1688Lys