Canonical Allele Identifier: CA394308830

Gene: TSC2

Linked Data

• ClinVar Variation Id: 851323
• ClinVar RCV Id: RCV001055698
• dbSNP Id: rs45501091
• gnomAD v4: 16-2086831-A-T
• MyVariant Identifiers: chr16:g.2136832A>T (hg19) ; chr16:g.2086831A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086831A>T , CM000678.2:g.2086831A>T	GRCh38
NC_000016.9:g.2136832A>T , CM000678.1:g.2136832A>T	GRCh37
NC_000016.8:g.2076833A>T	NCBI36
NG_005895.1:g.42526A>T , LRG_487:g.42526A>T
NG_008617.1:g.56390T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3298A>T	ENSP00000455997.2:n.*3298A>T
ENST00000642206.2:c.4796A>T	ENSP00000495146.2:p.Tyr1599Phe
ENST00000642365.2:c.4946A>T	ENSP00000495459.2:p.Tyr1649Phe
ENST00000644417.2:c.*5462A>T	ENSP00000493912.2:n.*5462A>T
ENST00000646464.2:c.*7698A>T	ENSP00000496610.2:n.*7698A>T
ENST00000219476.9:c.4949A>T MANE Select	ENSP00000219476.3:p.Tyr1650Phe
ENST00000350773.9:c.4880A>T	ENSP00000344383.4:p.Tyr1627Phe
ENST00000401874.7:c.4748A>T	ENSP00000384468.2:p.Tyr1583Phe
ENST00000568454.6:c.4781A>T	ENSP00000454487.1:p.Tyr1594Phe
ENST00000569110.2:c.1172A>T
ENST00000569930.2:n.2831A>T
ENST00000642365.1:c.3603A>T
ENST00000642561.1:c.4820A>T	ENSP00000495099.1:p.Tyr1607Phe
ENST00000642728.1:n.1131A>T
ENST00000642791.1:n.546A>T
ENST00000642797.1:c.4751A>T	ENSP00000493846.1:p.Tyr1584Phe
ENST00000642936.1:c.4817A>T	ENSP00000494514.1:p.Tyr1606Phe
ENST00000643088.1:c.4742A>T	ENSP00000494747.1:p.Tyr1581Phe
ENST00000643177.1:n.963A>T
ENST00000643426.1:n.2597A>T
ENST00000643946.1:c.4874A>T	ENSP00000495927.1:p.Tyr1625Phe
ENST00000644043.1:c.4820A>T	ENSP00000496262.1:p.Tyr1607Phe
ENST00000644278.1:n.431A>T
ENST00000644329.1:c.4748A>T	ENSP00000496611.1:p.Tyr1583Phe
ENST00000644335.1:c.4745A>T	ENSP00000496317.1:p.Tyr1582Phe
ENST00000644399.1:c.4870A>T
ENST00000645024.1:n.3033A>T
ENST00000646388.1:c.4943A>T	ENSP00000495921.1:p.Tyr1648Phe
ENST00000646557.1:n.110A>T
ENST00000646634.1:n.3764A>T
ENST00000646674.1:n.2201A>T
ENST00000647042.1:n.2172A>T
ENST00000647180.1:n.2062A>T
ENST00000219476.7:c.4949A>T	ENSP00000219476.3:p.Tyr1650Phe
ENST00000350773.8:c.4880A>T	ENSP00000344383.4:p.Tyr1627Phe
ENST00000382538.10:c.4604A>T	ENSP00000371978.6:p.Tyr1535Phe
ENST00000401874.6:c.4748A>T	ENSP00000384468.2:p.Tyr1583Phe
ENST00000439117.6:c.*4116A>T	ENSP00000406980.2:n.*4116A>T
ENST00000439673.6:c.4640A>T	ENSP00000399232.2:p.Tyr1547Phe
ENST00000497886.5:n.2672A>T
ENST00000568454.5:c.4781A>T	ENSP00000454487.1:p.Tyr1594Phe
ENST00000569110.1:c.1131A>T
ENST00000569930.1:n.2064A>T
NM_000548.3:c.4949A>T , LRG_487t1:c.4949A>T	NP_000539.2:p.Tyr1650Phe
NM_001077183.1:c.4748A>T	NP_001070651.1:p.Tyr1583Phe
NM_001114382.1:c.4880A>T	NP_001107854.1:p.Tyr1627Phe
XM_005255529.3:c.4820A>T	XP_005255586.2:p.Tyr1607Phe
XM_005255531.3:c.4751A>T	XP_005255588.2:p.Tyr1584Phe
XM_011522636.1:c.5003A>T	XP_011520938.1:p.Tyr1668Phe
XM_011522637.1:c.5000A>T	XP_011520939.1:p.Tyr1667Phe
XM_011522638.1:c.4892A>T	XP_011520940.1:p.Tyr1631Phe
XM_011522639.1:c.4874A>T	XP_011520941.1:p.Tyr1625Phe
XM_011522640.1:c.4871A>T	XP_011520942.1:p.Tyr1624Phe
XM_011522641.1:c.4640A>T	XP_011520943.1:p.Tyr1547Phe
NM_000548.4:c.4949A>T	NP_000539.2:p.Tyr1650Phe
NM_001077183.2:c.4748A>T	NP_001070651.1:p.Tyr1583Phe
NM_001114382.2:c.4880A>T	NP_001107854.1:p.Tyr1627Phe
NM_001318827.1:c.4640A>T	NP_001305756.1:p.Tyr1547Phe
NM_001318829.1:c.4604A>T	NP_001305758.1:p.Tyr1535Phe
NM_001318831.1:c.4217A>T	NP_001305760.1:p.Tyr1406Phe
NM_001318832.1:c.4781A>T	NP_001305761.1:p.Tyr1594Phe
NM_001363528.1:c.4751A>T	NP_001350457.1:p.Tyr1584Phe
NM_021055.2:c.4820A>T	NP_066399.2:p.Tyr1607Phe
XM_005255531.4:c.4751A>T	XP_005255588.2:p.Tyr1584Phe
XM_011522636.2:c.5003A>T	XP_011520938.1:p.Tyr1668Phe
XM_011522637.2:c.5000A>T	XP_011520939.1:p.Tyr1667Phe
XM_011522638.2:c.5165A>T	XP_011520940.2:p.Tyr1722Phe
XM_011522639.2:c.4874A>T	XP_011520941.1:p.Tyr1625Phe
XM_011522640.2:c.4871A>T	XP_011520942.1:p.Tyr1624Phe
XM_017023615.1:c.4946A>T	XP_016879104.1:p.Tyr1649Phe
XM_017023616.1:c.4817A>T	XP_016879105.1:p.Tyr1606Phe
XM_017023617.1:c.4913A>T	XP_016879106.1:p.Tyr1638Phe
XM_017023618.1:c.3659A>T	XP_016879107.1:p.Tyr1220Phe
XM_024450413.1:c.4748A>T	XP_024306181.1:p.Tyr1583Phe
NM_000548.5:c.4949A>T MANE Select	NP_000539.2:p.Tyr1650Phe
NM_001370404.1:c.4817A>T	NP_001357333.1:p.Tyr1606Phe
NM_001370405.1:c.4820A>T	NP_001357334.1:p.Tyr1607Phe
NM_001077183.3:c.4748A>T	NP_001070651.1:p.Tyr1583Phe
NM_001114382.3:c.4880A>T	NP_001107854.1:p.Tyr1627Phe
NM_001318827.2:c.4640A>T	NP_001305756.1:p.Tyr1547Phe
NM_001318829.2:c.4604A>T	NP_001305758.1:p.Tyr1535Phe
NM_001318831.2:c.4217A>T	NP_001305760.1:p.Tyr1406Phe
NM_001318832.2:c.4781A>T	NP_001305761.1:p.Tyr1594Phe
NM_001363528.2:c.4751A>T	NP_001350457.1:p.Tyr1584Phe
NM_021055.3:c.4820A>T	NP_066399.2:p.Tyr1607Phe