Canonical Allele Identifier: CA394314761

Gene: TSC2

Linked Data

• ClinVar Variation Id: 574061
• ClinVar RCV Id: RCV000695896
• dbSNP Id: rs373365980
• MyVariant Identifiers: chr16:g.2138319G>C (hg19) ; chr16:g.2088318G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088318G>C , CM000678.2:g.2088318G>C	GRCh38
NC_000016.9:g.2138319G>C , CM000678.1:g.2138319G>C	GRCh37
NC_000016.8:g.2078320G>C	NCBI36
NG_005895.1:g.44013G>C , LRG_487:g.44013G>C
NG_008617.1:g.54903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3601G>C	ENSP00000455997.2:n.*3601G>C
ENST00000642206.2:c.5099G>C	ENSP00000495146.2:p.Arg1700Pro
ENST00000642365.2:c.5249G>C	ENSP00000495459.2:p.Arg1750Pro
ENST00000644417.2:c.*5765G>C	ENSP00000493912.2:n.*5765G>C
ENST00000646464.2:c.*8001G>C	ENSP00000496610.2:n.*8001G>C
ENST00000219476.9:c.5252G>C MANE Select	ENSP00000219476.3:p.Arg1751Pro
ENST00000350773.9:c.5183G>C	ENSP00000344383.4:p.Arg1728Pro
ENST00000401874.7:c.5051G>C	ENSP00000384468.2:p.Arg1684Pro
ENST00000568454.6:c.5084G>C	ENSP00000454487.1:p.Arg1695Pro
ENST00000569110.2:c.1475G>C
ENST00000569930.2:n.3134G>C
ENST00000642365.1:c.3906G>C
ENST00000642561.1:c.5111G>C	ENSP00000495099.1:p.Arg1704Pro
ENST00000642791.1:n.849G>C
ENST00000642797.1:c.5054G>C	ENSP00000493846.1:p.Arg1685Pro
ENST00000642936.1:c.5120G>C	ENSP00000494514.1:p.Arg1707Pro
ENST00000643088.1:c.5045G>C	ENSP00000494747.1:p.Arg1682Pro
ENST00000643426.1:n.2900G>C
ENST00000643946.1:c.5177G>C	ENSP00000495927.1:p.Arg1726Pro
ENST00000644043.1:c.5123G>C	ENSP00000496262.1:p.Arg1708Pro
ENST00000644329.1:c.5138G>C	ENSP00000496611.1:p.Arg1713Pro
ENST00000644335.1:c.5048G>C	ENSP00000496317.1:p.Arg1683Pro
ENST00000644399.1:c.5173G>C
ENST00000645024.1:n.3336G>C
ENST00000646388.1:c.5246G>C	ENSP00000495921.1:p.Arg1749Pro
ENST00000646634.1:n.4067G>C
ENST00000646674.1:n.2504G>C
ENST00000647042.1:n.2475G>C
ENST00000647180.1:n.2365G>C
ENST00000219476.7:c.5252G>C	ENSP00000219476.3:p.Arg1751Pro
ENST00000350773.8:c.5183G>C	ENSP00000344383.4:p.Arg1728Pro
ENST00000382538.10:c.4907G>C	ENSP00000371978.6:p.Arg1636Pro
ENST00000401874.6:c.5051G>C	ENSP00000384468.2:p.Arg1684Pro
ENST00000439117.6:c.*4419G>C	ENSP00000406980.2:n.*4419G>C
ENST00000439673.6:c.4943G>C	ENSP00000399232.2:p.Arg1648Pro
ENST00000497886.5:n.2975G>C
ENST00000568454.5:c.5084G>C	ENSP00000454487.1:p.Arg1695Pro
ENST00000569110.1:c.1434G>C
ENST00000569930.1:n.2367G>C
NM_000548.3:c.5252G>C , LRG_487t1:c.5252G>C	NP_000539.2:p.Arg1751Pro
NM_001077183.1:c.5051G>C	NP_001070651.1:p.Arg1684Pro
NM_001114382.1:c.5183G>C	NP_001107854.1:p.Arg1728Pro
XM_005255529.3:c.5123G>C	XP_005255586.2:p.Arg1708Pro
XM_005255531.3:c.5054G>C	XP_005255588.2:p.Arg1685Pro
XM_011522636.1:c.5306G>C	XP_011520938.1:p.Arg1769Pro
XM_011522637.1:c.5303G>C	XP_011520939.1:p.Arg1768Pro
XM_011522638.1:c.5195G>C	XP_011520940.1:p.Arg1732Pro
XM_011522639.1:c.5177G>C	XP_011520941.1:p.Arg1726Pro
XM_011522640.1:c.5174G>C	XP_011520942.1:p.Arg1725Pro
XM_011522641.1:c.4943G>C	XP_011520943.1:p.Arg1648Pro
NM_000548.4:c.5252G>C	NP_000539.2:p.Arg1751Pro
NM_001077183.2:c.5051G>C	NP_001070651.1:p.Arg1684Pro
NM_001114382.2:c.5183G>C	NP_001107854.1:p.Arg1728Pro
NM_001318827.1:c.4943G>C	NP_001305756.1:p.Arg1648Pro
NM_001318829.1:c.4907G>C	NP_001305758.1:p.Arg1636Pro
NM_001318831.1:c.4520G>C	NP_001305760.1:p.Arg1507Pro
NM_001318832.1:c.5084G>C	NP_001305761.1:p.Arg1695Pro
NM_001363528.1:c.5054G>C	NP_001350457.1:p.Arg1685Pro
NM_021055.2:c.5123G>C	NP_066399.2:p.Arg1708Pro
XM_005255531.4:c.5054G>C	XP_005255588.2:p.Arg1685Pro
XM_011522636.2:c.5306G>C	XP_011520938.1:p.Arg1769Pro
XM_011522637.2:c.5303G>C	XP_011520939.1:p.Arg1768Pro
XM_011522638.2:c.5468G>C	XP_011520940.2:p.Arg1823Pro
XM_011522639.2:c.5177G>C	XP_011520941.1:p.Arg1726Pro
XM_011522640.2:c.5174G>C	XP_011520942.1:p.Arg1725Pro
XM_017023615.1:c.5249G>C	XP_016879104.1:p.Arg1750Pro
XM_017023616.1:c.5120G>C	XP_016879105.1:p.Arg1707Pro
XM_017023617.1:c.5216G>C	XP_016879106.1:p.Arg1739Pro
XM_017023618.1:c.3962G>C	XP_016879107.1:p.Arg1321Pro
XM_024450413.1:c.5138G>C	XP_024306181.1:p.Arg1713Pro
NM_000548.5:c.5252G>C MANE Select	NP_000539.2:p.Arg1751Pro
NM_001370404.1:c.5120G>C	NP_001357333.1:p.Arg1707Pro
NM_001370405.1:c.5111G>C	NP_001357334.1:p.Arg1704Pro
NM_001077183.3:c.5051G>C	NP_001070651.1:p.Arg1684Pro
NM_001114382.3:c.5183G>C	NP_001107854.1:p.Arg1728Pro
NM_001318827.2:c.4943G>C	NP_001305756.1:p.Arg1648Pro
NM_001318829.2:c.4907G>C	NP_001305758.1:p.Arg1636Pro
NM_001318831.2:c.4520G>C	NP_001305760.1:p.Arg1507Pro
NM_001318832.2:c.5084G>C	NP_001305761.1:p.Arg1695Pro
NM_001363528.2:c.5054G>C	NP_001350457.1:p.Arg1685Pro
NM_021055.3:c.5123G>C	NP_066399.2:p.Arg1708Pro