Canonical Allele Identifier: CA394304352

Gene: TSC2

Linked Data

• dbSNP Id: rs1596426554
• gnomAD v4: 16-2085236-T-G
• MyVariant Identifiers: chr16:g.2135237T>G (hg19) ; chr16:g.2085236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085236T>G , CM000678.2:g.2085236T>G	GRCh38
NC_000016.9:g.2135237T>G , CM000678.1:g.2135237T>G	GRCh37
NC_000016.8:g.2075238T>G	NCBI36
NG_005895.1:g.40931T>G , LRG_487:g.40931T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2925T>G	ENSP00000455997.2:n.*2925T>G
ENST00000642206.2:c.4423T>G	ENSP00000495146.2:p.Ser1475Ala
ENST00000642365.2:c.4573T>G	ENSP00000495459.2:p.Ser1525Ala
ENST00000644417.2:c.*4956T>G	ENSP00000493912.2:n.*4956T>G
ENST00000646464.2:c.*7325T>G	ENSP00000496610.2:n.*7325T>G
ENST00000219476.9:c.4576T>G MANE Select	ENSP00000219476.3:p.Ser1526Ala
ENST00000350773.9:c.4507T>G	ENSP00000344383.4:p.Ser1503Ala
ENST00000401874.7:c.4375T>G	ENSP00000384468.2:p.Ser1459Ala
ENST00000568454.6:c.4408T>G	ENSP00000454487.1:p.Ser1470Ala
ENST00000569110.2:c.799T>G
ENST00000569930.2:n.2458T>G
ENST00000642365.1:c.3230T>G
ENST00000642561.1:c.4447T>G	ENSP00000495099.1:p.Ser1483Ala
ENST00000642728.1:n.758T>G
ENST00000642791.1:n.173T>G
ENST00000642797.1:c.4378T>G	ENSP00000493846.1:p.Ser1460Ala
ENST00000642936.1:c.4444T>G	ENSP00000494514.1:p.Ser1482Ala
ENST00000643088.1:c.4369T>G	ENSP00000494747.1:p.Ser1457Ala
ENST00000643177.1:n.590T>G
ENST00000643426.1:n.2224T>G
ENST00000643946.1:c.4501T>G	ENSP00000495927.1:p.Ser1501Ala
ENST00000644043.1:c.4447T>G	ENSP00000496262.1:p.Ser1483Ala
ENST00000644278.1:n.58T>G
ENST00000644329.1:c.4375T>G	ENSP00000496611.1:p.Ser1459Ala
ENST00000644335.1:c.4372T>G	ENSP00000496317.1:p.Ser1458Ala
ENST00000644399.1:c.4497T>G
ENST00000645024.1:n.2660T>G
ENST00000646388.1:c.4570T>G	ENSP00000495921.1:p.Ser1524Ala
ENST00000646634.1:n.3391T>G
ENST00000646674.1:n.1828T>G
ENST00000647042.1:n.1799T>G
ENST00000647180.1:n.1689T>G
ENST00000219476.7:c.4576T>G	ENSP00000219476.3:p.Ser1526Ala
ENST00000350773.8:c.4507T>G	ENSP00000344383.4:p.Ser1503Ala
ENST00000382538.10:c.4231T>G	ENSP00000371978.6:p.Ser1411Ala
ENST00000401874.6:c.4375T>G	ENSP00000384468.2:p.Ser1459Ala
ENST00000439117.6:c.*3743T>G	ENSP00000406980.2:n.*3743T>G
ENST00000439673.6:c.4267T>G	ENSP00000399232.2:p.Ser1423Ala
ENST00000497886.5:n.2334T>G
ENST00000568454.5:c.4408T>G	ENSP00000454487.1:p.Ser1470Ala
ENST00000569110.1:c.758T>G
ENST00000569930.1:n.1691T>G
NM_000548.3:c.4576T>G , LRG_487t1:c.4576T>G	NP_000539.2:p.Ser1526Ala
NM_001077183.1:c.4375T>G	NP_001070651.1:p.Ser1459Ala
NM_001114382.1:c.4507T>G	NP_001107854.1:p.Ser1503Ala
XM_005255529.3:c.4447T>G	XP_005255586.2:p.Ser1483Ala
XM_005255531.3:c.4378T>G	XP_005255588.2:p.Ser1460Ala
XM_011522636.1:c.4630T>G	XP_011520938.1:p.Ser1544Ala
XM_011522637.1:c.4627T>G	XP_011520939.1:p.Ser1543Ala
XM_011522638.1:c.4519T>G	XP_011520940.1:p.Ser1507Ala
XM_011522639.1:c.4501T>G	XP_011520941.1:p.Ser1501Ala
XM_011522640.1:c.4498T>G	XP_011520942.1:p.Ser1500Ala
XM_011522641.1:c.4267T>G	XP_011520943.1:p.Ser1423Ala
NM_000548.4:c.4576T>G	NP_000539.2:p.Ser1526Ala
NM_001077183.2:c.4375T>G	NP_001070651.1:p.Ser1459Ala
NM_001114382.2:c.4507T>G	NP_001107854.1:p.Ser1503Ala
NM_001318827.1:c.4267T>G	NP_001305756.1:p.Ser1423Ala
NM_001318829.1:c.4231T>G	NP_001305758.1:p.Ser1411Ala
NM_001318831.1:c.3844T>G	NP_001305760.1:p.Ser1282Ala
NM_001318832.1:c.4408T>G	NP_001305761.1:p.Ser1470Ala
NM_001363528.1:c.4378T>G	NP_001350457.1:p.Ser1460Ala
NM_021055.2:c.4447T>G	NP_066399.2:p.Ser1483Ala
XM_005255531.4:c.4378T>G	XP_005255588.2:p.Ser1460Ala
XM_011522636.2:c.4630T>G	XP_011520938.1:p.Ser1544Ala
XM_011522637.2:c.4627T>G	XP_011520939.1:p.Ser1543Ala
XM_011522638.2:c.4792T>G	XP_011520940.2:p.Ser1598Ala
XM_011522639.2:c.4501T>G	XP_011520941.1:p.Ser1501Ala
XM_011522640.2:c.4498T>G	XP_011520942.1:p.Ser1500Ala
XM_017023615.1:c.4573T>G	XP_016879104.1:p.Ser1525Ala
XM_017023616.1:c.4444T>G	XP_016879105.1:p.Ser1482Ala
XM_017023617.1:c.4540T>G	XP_016879106.1:p.Ser1514Ala
XM_017023618.1:c.3286T>G	XP_016879107.1:p.Ser1096Ala
XM_024450413.1:c.4375T>G	XP_024306181.1:p.Ser1459Ala
NM_000548.5:c.4576T>G MANE Select	NP_000539.2:p.Ser1526Ala
NM_001370404.1:c.4444T>G	NP_001357333.1:p.Ser1482Ala
NM_001370405.1:c.4447T>G	NP_001357334.1:p.Ser1483Ala
NM_001077183.3:c.4375T>G	NP_001070651.1:p.Ser1459Ala
NM_001114382.3:c.4507T>G	NP_001107854.1:p.Ser1503Ala
NM_001318827.2:c.4267T>G	NP_001305756.1:p.Ser1423Ala
NM_001318829.2:c.4231T>G	NP_001305758.1:p.Ser1411Ala
NM_001318831.2:c.3844T>G	NP_001305760.1:p.Ser1282Ala
NM_001318832.2:c.4408T>G	NP_001305761.1:p.Ser1470Ala
NM_001363528.2:c.4378T>G	NP_001350457.1:p.Ser1460Ala
NM_021055.3:c.4447T>G	NP_066399.2:p.Ser1483Ala