Canonical Allele Identifier: CA020332

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49830
• ClinVar RCV Id: RCV000043096 ; RCV001050539 ; RCV001022358
• dbSNP Id: rs137854366
• gnomAD v4: 16-2084582-A-G
• MyVariant Identifiers: chr16:g.2134583A>G (hg19) ; chr16:g.2084582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084582A>G , CM000678.2:g.2084582A>G	GRCh38
NC_000016.9:g.2134583A>G , CM000678.1:g.2134583A>G	GRCh37
NC_000016.8:g.2074584A>G	NCBI36
NG_005895.1:g.40277A>G , LRG_487:g.40277A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2709A>G	ENSP00000455997.2:n.*2709A>G
ENST00000642206.2:c.4207A>G	ENSP00000495146.2:p.Ser1403Gly
ENST00000642365.2:c.4357A>G	ENSP00000495459.2:p.Ser1453Gly
ENST00000644417.2:c.*4740A>G	ENSP00000493912.2:n.*4740A>G
ENST00000646464.2:c.*7109A>G	ENSP00000496610.2:n.*7109A>G
ENST00000219476.9:c.4360A>G MANE Select	ENSP00000219476.3:p.Ser1454Gly
ENST00000350773.9:c.4291A>G	ENSP00000344383.4:p.Ser1431Gly
ENST00000401874.7:c.4159A>G	ENSP00000384468.2:p.Ser1387Gly
ENST00000568454.6:c.4192A>G	ENSP00000454487.1:p.Ser1398Gly
ENST00000569110.2:c.596A>G
ENST00000569930.2:n.2242A>G
ENST00000642365.1:c.3014A>G
ENST00000642561.1:c.4231A>G	ENSP00000495099.1:p.Ser1411Gly
ENST00000642728.1:n.542A>G
ENST00000642797.1:c.4162A>G	ENSP00000493846.1:p.Ser1388Gly
ENST00000642936.1:c.4228A>G	ENSP00000494514.1:p.Ser1410Gly
ENST00000643088.1:c.4159A>G	ENSP00000494747.1:p.Ser1387Gly
ENST00000643177.1:n.374A>G
ENST00000643426.1:n.2008A>G
ENST00000643946.1:c.4291A>G	ENSP00000495927.1:p.Ser1431Gly
ENST00000644043.1:c.4231A>G	ENSP00000496262.1:p.Ser1411Gly
ENST00000644329.1:c.4159A>G	ENSP00000496611.1:p.Ser1387Gly
ENST00000644335.1:c.4162A>G	ENSP00000496317.1:p.Ser1388Gly
ENST00000644399.1:c.4281A>G
ENST00000645024.1:n.2444A>G
ENST00000646388.1:c.4360A>G	ENSP00000495921.1:p.Ser1454Gly
ENST00000646634.1:n.3175A>G
ENST00000646674.1:n.1612A>G
ENST00000647042.1:n.1583A>G
ENST00000647180.1:n.1473A>G
ENST00000219476.7:c.4360A>G	ENSP00000219476.3:p.Ser1454Gly
ENST00000350773.8:c.4291A>G	ENSP00000344383.4:p.Ser1431Gly
ENST00000382538.10:c.4015A>G	ENSP00000371978.6:p.Ser1339Gly
ENST00000401874.6:c.4159A>G	ENSP00000384468.2:p.Ser1387Gly
ENST00000439117.6:c.*3527A>G	ENSP00000406980.2:n.*3527A>G
ENST00000439673.6:c.4051A>G	ENSP00000399232.2:p.Ser1351Gly
ENST00000497886.5:n.2118A>G
ENST00000568454.5:c.4192A>G	ENSP00000454487.1:p.Ser1398Gly
ENST00000569110.1:c.542A>G
ENST00000569930.1:n.1475A>G
NM_000548.3:c.4360A>G , LRG_487t1:c.4360A>G	NP_000539.2:p.Ser1454Gly
NM_001077183.1:c.4159A>G	NP_001070651.1:p.Ser1387Gly
NM_001114382.1:c.4291A>G	NP_001107854.1:p.Ser1431Gly
XM_005255529.3:c.4231A>G	XP_005255586.2:p.Ser1411Gly
XM_005255531.3:c.4162A>G	XP_005255588.2:p.Ser1388Gly
XM_011522636.1:c.4414A>G	XP_011520938.1:p.Ser1472Gly
XM_011522637.1:c.4411A>G	XP_011520939.1:p.Ser1471Gly
XM_011522638.1:c.4303A>G	XP_011520940.1:p.Ser1435Gly
XM_011522639.1:c.4285A>G	XP_011520941.1:p.Ser1429Gly
XM_011522640.1:c.4282A>G	XP_011520942.1:p.Ser1428Gly
XM_011522641.1:c.4051A>G	XP_011520943.1:p.Ser1351Gly
NM_000548.4:c.4360A>G	NP_000539.2:p.Ser1454Gly
NM_001077183.2:c.4159A>G	NP_001070651.1:p.Ser1387Gly
NM_001114382.2:c.4291A>G	NP_001107854.1:p.Ser1431Gly
NM_001318827.1:c.4051A>G	NP_001305756.1:p.Ser1351Gly
NM_001318829.1:c.4015A>G	NP_001305758.1:p.Ser1339Gly
NM_001318831.1:c.3628A>G	NP_001305760.1:p.Ser1210Gly
NM_001318832.1:c.4192A>G	NP_001305761.1:p.Ser1398Gly
NM_001363528.1:c.4162A>G	NP_001350457.1:p.Ser1388Gly
NM_021055.2:c.4231A>G	NP_066399.2:p.Ser1411Gly
XM_005255531.4:c.4162A>G	XP_005255588.2:p.Ser1388Gly
XM_011522636.2:c.4414A>G	XP_011520938.1:p.Ser1472Gly
XM_011522637.2:c.4411A>G	XP_011520939.1:p.Ser1471Gly
XM_011522638.2:c.4576A>G	XP_011520940.2:p.Ser1526Gly
XM_011522639.2:c.4285A>G	XP_011520941.1:p.Ser1429Gly
XM_011522640.2:c.4282A>G	XP_011520942.1:p.Ser1428Gly
XM_017023615.1:c.4357A>G	XP_016879104.1:p.Ser1453Gly
XM_017023616.1:c.4228A>G	XP_016879105.1:p.Ser1410Gly
XM_017023617.1:c.4324A>G	XP_016879106.1:p.Ser1442Gly
XM_017023618.1:c.3070A>G	XP_016879107.1:p.Ser1024Gly
XM_024450413.1:c.4159A>G	XP_024306181.1:p.Ser1387Gly
NM_000548.5:c.4360A>G MANE Select	NP_000539.2:p.Ser1454Gly
NM_001370404.1:c.4228A>G	NP_001357333.1:p.Ser1410Gly
NM_001370405.1:c.4231A>G	NP_001357334.1:p.Ser1411Gly
NM_001077183.3:c.4159A>G	NP_001070651.1:p.Ser1387Gly
NM_001114382.3:c.4291A>G	NP_001107854.1:p.Ser1431Gly
NM_001318827.2:c.4051A>G	NP_001305756.1:p.Ser1351Gly
NM_001318829.2:c.4015A>G	NP_001305758.1:p.Ser1339Gly
NM_001318831.2:c.3628A>G	NP_001305760.1:p.Ser1210Gly
NM_001318832.2:c.4192A>G	NP_001305761.1:p.Ser1398Gly
NM_001363528.2:c.4162A>G	NP_001350457.1:p.Ser1388Gly
NM_021055.3:c.4231A>G	NP_066399.2:p.Ser1411Gly