Canonical Allele Identifier: CA021378

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49334
• ClinVar RCV Id: RCV000042594 ; RCV000590964 ; RCV002336158
• dbSNP Id: rs45501091
• MyVariant Identifiers: chr16:g.2136832A>G (hg19) ; chr16:g.2086831A>G (hg38)
• PubMed: PMID:29610387

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3298A>G	ENSP00000455997.2:n.*3298A>G
ENST00000642206.2:c.4796A>G	ENSP00000495146.2:p.Tyr1599Cys
ENST00000642365.2:c.4946A>G	ENSP00000495459.2:p.Tyr1649Cys
ENST00000644417.2:c.*5462A>G	ENSP00000493912.2:n.*5462A>G
ENST00000646464.2:c.*7698A>G	ENSP00000496610.2:n.*7698A>G
ENST00000219476.9:c.4949A>G MANE Select	ENSP00000219476.3:p.Tyr1650Cys
ENST00000350773.9:c.4880A>G	ENSP00000344383.4:p.Tyr1627Cys
ENST00000401874.7:c.4748A>G	ENSP00000384468.2:p.Tyr1583Cys
ENST00000568454.6:c.4781A>G	ENSP00000454487.1:p.Tyr1594Cys
ENST00000569110.2:c.1172A>G
ENST00000569930.2:n.2831A>G
ENST00000642365.1:c.3603A>G
ENST00000642561.1:c.4820A>G	ENSP00000495099.1:p.Tyr1607Cys
ENST00000642728.1:n.1131A>G
ENST00000642791.1:n.546A>G
ENST00000642797.1:c.4751A>G	ENSP00000493846.1:p.Tyr1584Cys
ENST00000642936.1:c.4817A>G	ENSP00000494514.1:p.Tyr1606Cys
ENST00000643088.1:c.4742A>G	ENSP00000494747.1:p.Tyr1581Cys
ENST00000643177.1:n.963A>G
ENST00000643426.1:n.2597A>G
ENST00000643946.1:c.4874A>G	ENSP00000495927.1:p.Tyr1625Cys
ENST00000644043.1:c.4820A>G	ENSP00000496262.1:p.Tyr1607Cys
ENST00000644278.1:n.431A>G
ENST00000644329.1:c.4748A>G	ENSP00000496611.1:p.Tyr1583Cys
ENST00000644335.1:c.4745A>G	ENSP00000496317.1:p.Tyr1582Cys
ENST00000644399.1:c.4870A>G
ENST00000645024.1:n.3033A>G
ENST00000646388.1:c.4943A>G	ENSP00000495921.1:p.Tyr1648Cys
ENST00000646557.1:n.110A>G
ENST00000646634.1:n.3764A>G
ENST00000646674.1:n.2201A>G
ENST00000647042.1:n.2172A>G
ENST00000647180.1:n.2062A>G
ENST00000219476.7:c.4949A>G	ENSP00000219476.3:p.Tyr1650Cys
ENST00000350773.8:c.4880A>G	ENSP00000344383.4:p.Tyr1627Cys
ENST00000382538.10:c.4604A>G	ENSP00000371978.6:p.Tyr1535Cys
ENST00000401874.6:c.4748A>G	ENSP00000384468.2:p.Tyr1583Cys
ENST00000439117.6:c.*4116A>G	ENSP00000406980.2:n.*4116A>G
ENST00000439673.6:c.4640A>G	ENSP00000399232.2:p.Tyr1547Cys
ENST00000497886.5:n.2672A>G
ENST00000568454.5:c.4781A>G	ENSP00000454487.1:p.Tyr1594Cys
ENST00000569110.1:c.1131A>G
ENST00000569930.1:n.2064A>G
NM_000548.3:c.4949A>G , LRG_487t1:c.4949A>G	NP_000539.2:p.Tyr1650Cys
NM_001077183.1:c.4748A>G	NP_001070651.1:p.Tyr1583Cys
NM_001114382.1:c.4880A>G	NP_001107854.1:p.Tyr1627Cys
XM_005255529.3:c.4820A>G	XP_005255586.2:p.Tyr1607Cys
XM_005255531.3:c.4751A>G	XP_005255588.2:p.Tyr1584Cys
XM_011522636.1:c.5003A>G	XP_011520938.1:p.Tyr1668Cys
XM_011522637.1:c.5000A>G	XP_011520939.1:p.Tyr1667Cys
XM_011522638.1:c.4892A>G	XP_011520940.1:p.Tyr1631Cys
XM_011522639.1:c.4874A>G	XP_011520941.1:p.Tyr1625Cys
XM_011522640.1:c.4871A>G	XP_011520942.1:p.Tyr1624Cys
XM_011522641.1:c.4640A>G	XP_011520943.1:p.Tyr1547Cys
NM_000548.4:c.4949A>G	NP_000539.2:p.Tyr1650Cys
NM_001077183.2:c.4748A>G	NP_001070651.1:p.Tyr1583Cys
NM_001114382.2:c.4880A>G	NP_001107854.1:p.Tyr1627Cys
NM_001318827.1:c.4640A>G	NP_001305756.1:p.Tyr1547Cys
NM_001318829.1:c.4604A>G	NP_001305758.1:p.Tyr1535Cys
NM_001318831.1:c.4217A>G	NP_001305760.1:p.Tyr1406Cys
NM_001318832.1:c.4781A>G	NP_001305761.1:p.Tyr1594Cys
NM_001363528.1:c.4751A>G	NP_001350457.1:p.Tyr1584Cys
NM_021055.2:c.4820A>G	NP_066399.2:p.Tyr1607Cys
XM_005255531.4:c.4751A>G	XP_005255588.2:p.Tyr1584Cys
XM_011522636.2:c.5003A>G	XP_011520938.1:p.Tyr1668Cys
XM_011522637.2:c.5000A>G	XP_011520939.1:p.Tyr1667Cys
XM_011522638.2:c.5165A>G	XP_011520940.2:p.Tyr1722Cys
XM_011522639.2:c.4874A>G	XP_011520941.1:p.Tyr1625Cys
XM_011522640.2:c.4871A>G	XP_011520942.1:p.Tyr1624Cys
XM_017023615.1:c.4946A>G	XP_016879104.1:p.Tyr1649Cys
XM_017023616.1:c.4817A>G	XP_016879105.1:p.Tyr1606Cys
XM_017023617.1:c.4913A>G	XP_016879106.1:p.Tyr1638Cys
XM_017023618.1:c.3659A>G	XP_016879107.1:p.Tyr1220Cys
XM_024450413.1:c.4748A>G	XP_024306181.1:p.Tyr1583Cys
NM_000548.5:c.4949A>G MANE Select	NP_000539.2:p.Tyr1650Cys
NM_001370404.1:c.4817A>G	NP_001357333.1:p.Tyr1606Cys
NM_001370405.1:c.4820A>G	NP_001357334.1:p.Tyr1607Cys
NM_001077183.3:c.4748A>G	NP_001070651.1:p.Tyr1583Cys
NM_001114382.3:c.4880A>G	NP_001107854.1:p.Tyr1627Cys
NM_001318827.2:c.4640A>G	NP_001305756.1:p.Tyr1547Cys
NM_001318829.2:c.4604A>G	NP_001305758.1:p.Tyr1535Cys
NM_001318831.2:c.4217A>G	NP_001305760.1:p.Tyr1406Cys
NM_001318832.2:c.4781A>G	NP_001305761.1:p.Tyr1594Cys
NM_001363528.2:c.4751A>G	NP_001350457.1:p.Tyr1584Cys
NM_021055.3:c.4820A>G	NP_066399.2:p.Tyr1607Cys