Canonical Allele Identifier: CA022307

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49367
• ClinVar RCV Id: RCV000042627 ; RCV000271618 ; RCV002313736 ; RCV001797602
• dbSNP Id: rs45517414
• MyVariant Identifiers: chr16:g.2138321C>T (hg19) ; chr16:g.2088320C>T (hg38)
• PubMed: PMID:17304050

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088320C>T , CM000678.2:g.2088320C>T	GRCh38
NC_000016.9:g.2138321C>T , CM000678.1:g.2138321C>T	GRCh37
NC_000016.8:g.2078322C>T	NCBI36
NG_005895.1:g.44015C>T , LRG_487:g.44015C>T
NG_008617.1:g.54901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3603C>T	ENSP00000455997.2:n.*3603C>T
ENST00000642206.2:c.5101C>T	ENSP00000495146.2:p.Gln1701Ter
ENST00000642365.2:c.5251C>T	ENSP00000495459.2:p.Gln1751Ter
ENST00000644417.2:c.*5767C>T	ENSP00000493912.2:n.*5767C>T
ENST00000646464.2:c.*8003C>T	ENSP00000496610.2:n.*8003C>T
ENST00000219476.9:c.5254C>T MANE Select	ENSP00000219476.3:p.Gln1752Ter
ENST00000350773.9:c.5185C>T	ENSP00000344383.4:p.Gln1729Ter
ENST00000401874.7:c.5053C>T	ENSP00000384468.2:p.Gln1685Ter
ENST00000568454.6:c.5086C>T	ENSP00000454487.1:p.Gln1696Ter
ENST00000569110.2:c.1477C>T
ENST00000569930.2:n.3136C>T
ENST00000642365.1:c.3908C>T
ENST00000642561.1:c.5113C>T	ENSP00000495099.1:p.Gln1705Ter
ENST00000642791.1:n.851C>T
ENST00000642797.1:c.5056C>T	ENSP00000493846.1:p.Gln1686Ter
ENST00000642936.1:c.5122C>T	ENSP00000494514.1:p.Gln1708Ter
ENST00000643088.1:c.5047C>T	ENSP00000494747.1:p.Gln1683Ter
ENST00000643426.1:n.2902C>T
ENST00000643946.1:c.5179C>T	ENSP00000495927.1:p.Gln1727Ter
ENST00000644043.1:c.5125C>T	ENSP00000496262.1:p.Gln1709Ter
ENST00000644329.1:c.5140C>T	ENSP00000496611.1:p.Gln1714Ter
ENST00000644335.1:c.5050C>T	ENSP00000496317.1:p.Gln1684Ter
ENST00000644399.1:c.5175C>T
ENST00000645024.1:n.3338C>T
ENST00000646388.1:c.5248C>T	ENSP00000495921.1:p.Gln1750Ter
ENST00000646634.1:n.4069C>T
ENST00000646674.1:n.2506C>T
ENST00000647042.1:n.2477C>T
ENST00000647180.1:n.2367C>T
ENST00000219476.7:c.5254C>T	ENSP00000219476.3:p.Gln1752Ter
ENST00000350773.8:c.5185C>T	ENSP00000344383.4:p.Gln1729Ter
ENST00000382538.10:c.4909C>T	ENSP00000371978.6:p.Gln1637Ter
ENST00000401874.6:c.5053C>T	ENSP00000384468.2:p.Gln1685Ter
ENST00000439117.6:c.*4421C>T	ENSP00000406980.2:n.*4421C>T
ENST00000439673.6:c.4945C>T	ENSP00000399232.2:p.Gln1649Ter
ENST00000497886.5:n.2977C>T
ENST00000568454.5:c.5086C>T	ENSP00000454487.1:p.Gln1696Ter
ENST00000569110.1:c.1436C>T
ENST00000569930.1:n.2369C>T
NM_000548.3:c.5254C>T , LRG_487t1:c.5254C>T	NP_000539.2:p.Gln1752Ter
NM_001077183.1:c.5053C>T	NP_001070651.1:p.Gln1685Ter
NM_001114382.1:c.5185C>T	NP_001107854.1:p.Gln1729Ter
XM_005255529.3:c.5125C>T	XP_005255586.2:p.Gln1709Ter
XM_005255531.3:c.5056C>T	XP_005255588.2:p.Gln1686Ter
XM_011522636.1:c.5308C>T	XP_011520938.1:p.Gln1770Ter
XM_011522637.1:c.5305C>T	XP_011520939.1:p.Gln1769Ter
XM_011522638.1:c.5197C>T	XP_011520940.1:p.Gln1733Ter
XM_011522639.1:c.5179C>T	XP_011520941.1:p.Gln1727Ter
XM_011522640.1:c.5176C>T	XP_011520942.1:p.Gln1726Ter
XM_011522641.1:c.4945C>T	XP_011520943.1:p.Gln1649Ter
NM_000548.4:c.5254C>T	NP_000539.2:p.Gln1752Ter
NM_001077183.2:c.5053C>T	NP_001070651.1:p.Gln1685Ter
NM_001114382.2:c.5185C>T	NP_001107854.1:p.Gln1729Ter
NM_001318827.1:c.4945C>T	NP_001305756.1:p.Gln1649Ter
NM_001318829.1:c.4909C>T	NP_001305758.1:p.Gln1637Ter
NM_001318831.1:c.4522C>T	NP_001305760.1:p.Gln1508Ter
NM_001318832.1:c.5086C>T	NP_001305761.1:p.Gln1696Ter
NM_001363528.1:c.5056C>T	NP_001350457.1:p.Gln1686Ter
NM_021055.2:c.5125C>T	NP_066399.2:p.Gln1709Ter
XM_005255531.4:c.5056C>T	XP_005255588.2:p.Gln1686Ter
XM_011522636.2:c.5308C>T	XP_011520938.1:p.Gln1770Ter
XM_011522637.2:c.5305C>T	XP_011520939.1:p.Gln1769Ter
XM_011522638.2:c.5470C>T	XP_011520940.2:p.Gln1824Ter
XM_011522639.2:c.5179C>T	XP_011520941.1:p.Gln1727Ter
XM_011522640.2:c.5176C>T	XP_011520942.1:p.Gln1726Ter
XM_017023615.1:c.5251C>T	XP_016879104.1:p.Gln1751Ter
XM_017023616.1:c.5122C>T	XP_016879105.1:p.Gln1708Ter
XM_017023617.1:c.5218C>T	XP_016879106.1:p.Gln1740Ter
XM_017023618.1:c.3964C>T	XP_016879107.1:p.Gln1322Ter
XM_024450413.1:c.5140C>T	XP_024306181.1:p.Gln1714Ter
NM_000548.5:c.5254C>T MANE Select	NP_000539.2:p.Gln1752Ter
NM_001370404.1:c.5122C>T	NP_001357333.1:p.Gln1708Ter
NM_001370405.1:c.5113C>T	NP_001357334.1:p.Gln1705Ter
NM_001077183.3:c.5053C>T	NP_001070651.1:p.Gln1685Ter
NM_001114382.3:c.5185C>T	NP_001107854.1:p.Gln1729Ter
NM_001318827.2:c.4945C>T	NP_001305756.1:p.Gln1649Ter
NM_001318829.2:c.4909C>T	NP_001305758.1:p.Gln1637Ter
NM_001318831.2:c.4522C>T	NP_001305760.1:p.Gln1508Ter
NM_001318832.2:c.5086C>T	NP_001305761.1:p.Gln1696Ter
NM_001363528.2:c.5056C>T	NP_001350457.1:p.Gln1686Ter
NM_021055.3:c.5125C>T	NP_066399.2:p.Gln1709Ter