Canonical Allele Identifier: CA394314713

Gene: TSC2

Linked Data

• ClinVar Variation Id: 535984
• ClinVar RCV Id: RCV000644233 ; RCV002343306 ; RCV004004021
• dbSNP Id: rs1555440785
• gnomAD v4: 16-2088312-G-A
• MyVariant Identifiers: chr16:g.2138313G>A (hg19) ; chr16:g.2088312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088312G>A , CM000678.2:g.2088312G>A	GRCh38
NC_000016.9:g.2138313G>A , CM000678.1:g.2138313G>A	GRCh37
NC_000016.8:g.2078314G>A	NCBI36
NG_005895.1:g.44007G>A , LRG_487:g.44007G>A
NG_008617.1:g.54909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3595G>A	ENSP00000455997.2:n.*3595G>A
ENST00000642206.2:c.5093G>A	ENSP00000495146.2:p.Arg1698Gln
ENST00000642365.2:c.5243G>A	ENSP00000495459.2:p.Arg1748Gln
ENST00000644417.2:c.*5759G>A	ENSP00000493912.2:n.*5759G>A
ENST00000646464.2:c.*7995G>A	ENSP00000496610.2:n.*7995G>A
ENST00000219476.9:c.5246G>A MANE Select	ENSP00000219476.3:p.Arg1749Gln
ENST00000350773.9:c.5177G>A	ENSP00000344383.4:p.Arg1726Gln
ENST00000401874.7:c.5045G>A	ENSP00000384468.2:p.Arg1682Gln
ENST00000568454.6:c.5078G>A	ENSP00000454487.1:p.Arg1693Gln
ENST00000569110.2:c.1469G>A
ENST00000569930.2:n.3128G>A
ENST00000642365.1:c.3900G>A
ENST00000642561.1:c.5105G>A	ENSP00000495099.1:p.Arg1702Gln
ENST00000642791.1:n.843G>A
ENST00000642797.1:c.5048G>A	ENSP00000493846.1:p.Arg1683Gln
ENST00000642936.1:c.5114G>A	ENSP00000494514.1:p.Arg1705Gln
ENST00000643088.1:c.5039G>A	ENSP00000494747.1:p.Arg1680Gln
ENST00000643426.1:n.2894G>A
ENST00000643946.1:c.5171G>A	ENSP00000495927.1:p.Arg1724Gln
ENST00000644043.1:c.5117G>A	ENSP00000496262.1:p.Arg1706Gln
ENST00000644329.1:c.5132G>A	ENSP00000496611.1:p.Arg1711Gln
ENST00000644335.1:c.5042G>A	ENSP00000496317.1:p.Arg1681Gln
ENST00000644399.1:c.5167G>A
ENST00000645024.1:n.3330G>A
ENST00000646388.1:c.5240G>A	ENSP00000495921.1:p.Arg1747Gln
ENST00000646634.1:n.4061G>A
ENST00000646674.1:n.2498G>A
ENST00000647042.1:n.2469G>A
ENST00000647180.1:n.2359G>A
ENST00000219476.7:c.5246G>A	ENSP00000219476.3:p.Arg1749Gln
ENST00000350773.8:c.5177G>A	ENSP00000344383.4:p.Arg1726Gln
ENST00000382538.10:c.4901G>A	ENSP00000371978.6:p.Arg1634Gln
ENST00000401874.6:c.5045G>A	ENSP00000384468.2:p.Arg1682Gln
ENST00000439117.6:c.*4413G>A	ENSP00000406980.2:n.*4413G>A
ENST00000439673.6:c.4937G>A	ENSP00000399232.2:p.Arg1646Gln
ENST00000497886.5:n.2969G>A
ENST00000568454.5:c.5078G>A	ENSP00000454487.1:p.Arg1693Gln
ENST00000569110.1:c.1428G>A
ENST00000569930.1:n.2361G>A
NM_000548.3:c.5246G>A , LRG_487t1:c.5246G>A	NP_000539.2:p.Arg1749Gln
NM_001077183.1:c.5045G>A	NP_001070651.1:p.Arg1682Gln
NM_001114382.1:c.5177G>A	NP_001107854.1:p.Arg1726Gln
XM_005255529.3:c.5117G>A	XP_005255586.2:p.Arg1706Gln
XM_005255531.3:c.5048G>A	XP_005255588.2:p.Arg1683Gln
XM_011522636.1:c.5300G>A	XP_011520938.1:p.Arg1767Gln
XM_011522637.1:c.5297G>A	XP_011520939.1:p.Arg1766Gln
XM_011522638.1:c.5189G>A	XP_011520940.1:p.Arg1730Gln
XM_011522639.1:c.5171G>A	XP_011520941.1:p.Arg1724Gln
XM_011522640.1:c.5168G>A	XP_011520942.1:p.Arg1723Gln
XM_011522641.1:c.4937G>A	XP_011520943.1:p.Arg1646Gln
NM_000548.4:c.5246G>A	NP_000539.2:p.Arg1749Gln
NM_001077183.2:c.5045G>A	NP_001070651.1:p.Arg1682Gln
NM_001114382.2:c.5177G>A	NP_001107854.1:p.Arg1726Gln
NM_001318827.1:c.4937G>A	NP_001305756.1:p.Arg1646Gln
NM_001318829.1:c.4901G>A	NP_001305758.1:p.Arg1634Gln
NM_001318831.1:c.4514G>A	NP_001305760.1:p.Arg1505Gln
NM_001318832.1:c.5078G>A	NP_001305761.1:p.Arg1693Gln
NM_001363528.1:c.5048G>A	NP_001350457.1:p.Arg1683Gln
NM_021055.2:c.5117G>A	NP_066399.2:p.Arg1706Gln
XM_005255531.4:c.5048G>A	XP_005255588.2:p.Arg1683Gln
XM_011522636.2:c.5300G>A	XP_011520938.1:p.Arg1767Gln
XM_011522637.2:c.5297G>A	XP_011520939.1:p.Arg1766Gln
XM_011522638.2:c.5462G>A	XP_011520940.2:p.Arg1821Gln
XM_011522639.2:c.5171G>A	XP_011520941.1:p.Arg1724Gln
XM_011522640.2:c.5168G>A	XP_011520942.1:p.Arg1723Gln
XM_017023615.1:c.5243G>A	XP_016879104.1:p.Arg1748Gln
XM_017023616.1:c.5114G>A	XP_016879105.1:p.Arg1705Gln
XM_017023617.1:c.5210G>A	XP_016879106.1:p.Arg1737Gln
XM_017023618.1:c.3956G>A	XP_016879107.1:p.Arg1319Gln
XM_024450413.1:c.5132G>A	XP_024306181.1:p.Arg1711Gln
NM_000548.5:c.5246G>A MANE Select	NP_000539.2:p.Arg1749Gln
NM_001370404.1:c.5114G>A	NP_001357333.1:p.Arg1705Gln
NM_001370405.1:c.5105G>A	NP_001357334.1:p.Arg1702Gln
NM_001077183.3:c.5045G>A	NP_001070651.1:p.Arg1682Gln
NM_001114382.3:c.5177G>A	NP_001107854.1:p.Arg1726Gln
NM_001318827.2:c.4937G>A	NP_001305756.1:p.Arg1646Gln
NM_001318829.2:c.4901G>A	NP_001305758.1:p.Arg1634Gln
NM_001318831.2:c.4514G>A	NP_001305760.1:p.Arg1505Gln
NM_001318832.2:c.5078G>A	NP_001305761.1:p.Arg1693Gln
NM_001363528.2:c.5048G>A	NP_001350457.1:p.Arg1683Gln
NM_021055.3:c.5117G>A	NP_066399.2:p.Arg1706Gln