Canonical Allele Identifier: CA022452

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49371
• ClinVar RCV Id: RCV000042631
• dbSNP Id: rs137854288
• gnomAD v4: 16-2088570-G-T
• MyVariant Identifiers: chr16:g.2138571G>T (hg19) ; chr16:g.2088570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088570G>T , CM000678.2:g.2088570G>T	GRCh38
NC_000016.9:g.2138571G>T , CM000678.1:g.2138571G>T	GRCh37
NC_000016.8:g.2078572G>T	NCBI36
NG_005895.1:g.44265G>T , LRG_487:g.44265G>T
NG_008617.1:g.54651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3733G>T	ENSP00000455997.2:n.*3733G>T
ENST00000642206.2:c.5231G>T	ENSP00000495146.2:p.Arg1744Leu
ENST00000642365.2:c.5381G>T	ENSP00000495459.2:p.Arg1794Leu
ENST00000644417.2:c.*5897G>T	ENSP00000493912.2:n.*5897G>T
ENST00000646464.2:c.*8133G>T	ENSP00000496610.2:n.*8133G>T
ENST00000219476.9:c.5384G>T MANE Select	ENSP00000219476.3:p.Arg1795Leu
ENST00000350773.9:c.5315G>T	ENSP00000344383.4:p.Arg1772Leu
ENST00000401874.7:c.5183G>T	ENSP00000384468.2:p.Arg1728Leu
ENST00000568454.6:c.5216G>T	ENSP00000454487.1:p.Arg1739Leu
ENST00000569110.2:c.1607G>T
ENST00000569930.2:n.3266G>T
ENST00000642365.1:c.4038G>T
ENST00000642561.1:c.5243G>T	ENSP00000495099.1:p.Arg1748Leu
ENST00000642791.1:n.981G>T
ENST00000642797.1:c.5186G>T	ENSP00000493846.1:p.Arg1729Leu
ENST00000642936.1:c.5252G>T	ENSP00000494514.1:p.Arg1751Leu
ENST00000643088.1:c.5177G>T	ENSP00000494747.1:p.Arg1726Leu
ENST00000643426.1:n.3032G>T
ENST00000643946.1:c.5309G>T	ENSP00000495927.1:p.Arg1770Leu
ENST00000644043.1:c.5255G>T	ENSP00000496262.1:p.Arg1752Leu
ENST00000644329.1:c.5270G>T	ENSP00000496611.1:p.Arg1757Leu
ENST00000644335.1:c.5180G>T	ENSP00000496317.1:p.Arg1727Leu
ENST00000644399.1:c.5305G>T
ENST00000645024.1:n.3468G>T
ENST00000646388.1:c.5378G>T	ENSP00000495921.1:p.Arg1793Leu
ENST00000646634.1:n.4199G>T
ENST00000646674.1:n.2636G>T
ENST00000647042.1:n.2607G>T
ENST00000647180.1:n.2497G>T
ENST00000219476.7:c.5384G>T	ENSP00000219476.3:p.Arg1795Leu
ENST00000350773.8:c.5315G>T	ENSP00000344383.4:p.Arg1772Leu
ENST00000382538.10:c.5039G>T	ENSP00000371978.6:p.Arg1680Leu
ENST00000401874.6:c.5183G>T	ENSP00000384468.2:p.Arg1728Leu
ENST00000439117.6:c.*4551G>T	ENSP00000406980.2:n.*4551G>T
ENST00000439673.6:c.5075G>T	ENSP00000399232.2:p.Arg1692Leu
ENST00000497886.5:n.3107G>T
ENST00000568454.5:c.5216G>T	ENSP00000454487.1:p.Arg1739Leu
ENST00000569110.1:c.1566G>T
ENST00000569930.1:n.2499G>T
NM_000548.3:c.5384G>T , LRG_487t1:c.5384G>T	NP_000539.2:p.Arg1795Leu
NM_001077183.1:c.5183G>T	NP_001070651.1:p.Arg1728Leu
NM_001114382.1:c.5315G>T	NP_001107854.1:p.Arg1772Leu
XM_005255529.3:c.5255G>T	XP_005255586.2:p.Arg1752Leu
XM_005255531.3:c.5186G>T	XP_005255588.2:p.Arg1729Leu
XM_011522636.1:c.5438G>T	XP_011520938.1:p.Arg1813Leu
XM_011522637.1:c.5435G>T	XP_011520939.1:p.Arg1812Leu
XM_011522638.1:c.5327G>T	XP_011520940.1:p.Arg1776Leu
XM_011522639.1:c.5309G>T	XP_011520941.1:p.Arg1770Leu
XM_011522640.1:c.5306G>T	XP_011520942.1:p.Arg1769Leu
XM_011522641.1:c.5075G>T	XP_011520943.1:p.Arg1692Leu
NM_000548.4:c.5384G>T	NP_000539.2:p.Arg1795Leu
NM_001077183.2:c.5183G>T	NP_001070651.1:p.Arg1728Leu
NM_001114382.2:c.5315G>T	NP_001107854.1:p.Arg1772Leu
NM_001318827.1:c.5075G>T	NP_001305756.1:p.Arg1692Leu
NM_001318829.1:c.5039G>T	NP_001305758.1:p.Arg1680Leu
NM_001318831.1:c.4652G>T	NP_001305760.1:p.Arg1551Leu
NM_001318832.1:c.5216G>T	NP_001305761.1:p.Arg1739Leu
NM_001363528.1:c.5186G>T	NP_001350457.1:p.Arg1729Leu
NM_021055.2:c.5255G>T	NP_066399.2:p.Arg1752Leu
XM_005255531.4:c.5186G>T	XP_005255588.2:p.Arg1729Leu
XM_011522636.2:c.5438G>T	XP_011520938.1:p.Arg1813Leu
XM_011522637.2:c.5435G>T	XP_011520939.1:p.Arg1812Leu
XM_011522638.2:c.5600G>T	XP_011520940.2:p.Arg1867Leu
XM_011522639.2:c.5309G>T	XP_011520941.1:p.Arg1770Leu
XM_011522640.2:c.5306G>T	XP_011520942.1:p.Arg1769Leu
XM_017023615.1:c.5381G>T	XP_016879104.1:p.Arg1794Leu
XM_017023616.1:c.5252G>T	XP_016879105.1:p.Arg1751Leu
XM_017023617.1:c.5348G>T	XP_016879106.1:p.Arg1783Leu
XM_017023618.1:c.4094G>T	XP_016879107.1:p.Arg1365Leu
XM_024450413.1:c.5270G>T	XP_024306181.1:p.Arg1757Leu
NM_000548.5:c.5384G>T MANE Select	NP_000539.2:p.Arg1795Leu
NM_001370404.1:c.5252G>T	NP_001357333.1:p.Arg1751Leu
NM_001370405.1:c.5243G>T	NP_001357334.1:p.Arg1748Leu
NM_001077183.3:c.5183G>T	NP_001070651.1:p.Arg1728Leu
NM_001114382.3:c.5315G>T	NP_001107854.1:p.Arg1772Leu
NM_001318827.2:c.5075G>T	NP_001305756.1:p.Arg1692Leu
NM_001318829.2:c.5039G>T	NP_001305758.1:p.Arg1680Leu
NM_001318831.2:c.4652G>T	NP_001305760.1:p.Arg1551Leu
NM_001318832.2:c.5216G>T	NP_001305761.1:p.Arg1739Leu
NM_001363528.2:c.5186G>T	NP_001350457.1:p.Arg1729Leu
NM_021055.3:c.5255G>T	NP_066399.2:p.Arg1752Leu