Canonical Allele Identifier: CA394308832

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2136833C>A (hg19) ; chr16:g.2086832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086832C>A , CM000678.2:g.2086832C>A	GRCh38
NC_000016.9:g.2136833C>A , CM000678.1:g.2136833C>A	GRCh37
NC_000016.8:g.2076834C>A	NCBI36
NG_005895.1:g.42527C>A , LRG_487:g.42527C>A
NG_008617.1:g.56389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3299C>A	ENSP00000455997.2:n.*3299C>A
ENST00000642206.2:c.4797C>A	ENSP00000495146.2:p.Tyr1599Ter
ENST00000642365.2:c.4947C>A	ENSP00000495459.2:p.Tyr1649Ter
ENST00000644417.2:c.*5463C>A	ENSP00000493912.2:n.*5463C>A
ENST00000646464.2:c.*7699C>A	ENSP00000496610.2:n.*7699C>A
ENST00000219476.9:c.4950C>A MANE Select	ENSP00000219476.3:p.Tyr1650Ter
ENST00000350773.9:c.4881C>A	ENSP00000344383.4:p.Tyr1627Ter
ENST00000401874.7:c.4749C>A	ENSP00000384468.2:p.Tyr1583Ter
ENST00000568454.6:c.4782C>A	ENSP00000454487.1:p.Tyr1594Ter
ENST00000569110.2:c.1173C>A
ENST00000569930.2:n.2832C>A
ENST00000642365.1:c.3604C>A
ENST00000642561.1:c.4821C>A	ENSP00000495099.1:p.Tyr1607Ter
ENST00000642728.1:n.1132C>A
ENST00000642791.1:n.547C>A
ENST00000642797.1:c.4752C>A	ENSP00000493846.1:p.Tyr1584Ter
ENST00000642936.1:c.4818C>A	ENSP00000494514.1:p.Tyr1606Ter
ENST00000643088.1:c.4743C>A	ENSP00000494747.1:p.Tyr1581Ter
ENST00000643177.1:n.964C>A
ENST00000643426.1:n.2598C>A
ENST00000643946.1:c.4875C>A	ENSP00000495927.1:p.Tyr1625Ter
ENST00000644043.1:c.4821C>A	ENSP00000496262.1:p.Tyr1607Ter
ENST00000644278.1:n.432C>A
ENST00000644329.1:c.4749C>A	ENSP00000496611.1:p.Tyr1583Ter
ENST00000644335.1:c.4746C>A	ENSP00000496317.1:p.Tyr1582Ter
ENST00000644399.1:c.4871C>A
ENST00000645024.1:n.3034C>A
ENST00000646388.1:c.4944C>A	ENSP00000495921.1:p.Tyr1648Ter
ENST00000646557.1:n.111C>A
ENST00000646634.1:n.3765C>A
ENST00000646674.1:n.2202C>A
ENST00000647042.1:n.2173C>A
ENST00000647180.1:n.2063C>A
ENST00000219476.7:c.4950C>A	ENSP00000219476.3:p.Tyr1650Ter
ENST00000350773.8:c.4881C>A	ENSP00000344383.4:p.Tyr1627Ter
ENST00000382538.10:c.4605C>A	ENSP00000371978.6:p.Tyr1535Ter
ENST00000401874.6:c.4749C>A	ENSP00000384468.2:p.Tyr1583Ter
ENST00000439117.6:c.*4117C>A	ENSP00000406980.2:n.*4117C>A
ENST00000439673.6:c.4641C>A	ENSP00000399232.2:p.Tyr1547Ter
ENST00000497886.5:n.2673C>A
ENST00000568454.5:c.4782C>A	ENSP00000454487.1:p.Tyr1594Ter
ENST00000569110.1:c.1132C>A
ENST00000569930.1:n.2065C>A
NM_000548.3:c.4950C>A , LRG_487t1:c.4950C>A	NP_000539.2:p.Tyr1650Ter
NM_001077183.1:c.4749C>A	NP_001070651.1:p.Tyr1583Ter
NM_001114382.1:c.4881C>A	NP_001107854.1:p.Tyr1627Ter
XM_005255529.3:c.4821C>A	XP_005255586.2:p.Tyr1607Ter
XM_005255531.3:c.4752C>A	XP_005255588.2:p.Tyr1584Ter
XM_011522636.1:c.5004C>A	XP_011520938.1:p.Tyr1668Ter
XM_011522637.1:c.5001C>A	XP_011520939.1:p.Tyr1667Ter
XM_011522638.1:c.4893C>A	XP_011520940.1:p.Tyr1631Ter
XM_011522639.1:c.4875C>A	XP_011520941.1:p.Tyr1625Ter
XM_011522640.1:c.4872C>A	XP_011520942.1:p.Tyr1624Ter
XM_011522641.1:c.4641C>A	XP_011520943.1:p.Tyr1547Ter
NM_000548.4:c.4950C>A	NP_000539.2:p.Tyr1650Ter
NM_001077183.2:c.4749C>A	NP_001070651.1:p.Tyr1583Ter
NM_001114382.2:c.4881C>A	NP_001107854.1:p.Tyr1627Ter
NM_001318827.1:c.4641C>A	NP_001305756.1:p.Tyr1547Ter
NM_001318829.1:c.4605C>A	NP_001305758.1:p.Tyr1535Ter
NM_001318831.1:c.4218C>A	NP_001305760.1:p.Tyr1406Ter
NM_001318832.1:c.4782C>A	NP_001305761.1:p.Tyr1594Ter
NM_001363528.1:c.4752C>A	NP_001350457.1:p.Tyr1584Ter
NM_021055.2:c.4821C>A	NP_066399.2:p.Tyr1607Ter
XM_005255531.4:c.4752C>A	XP_005255588.2:p.Tyr1584Ter
XM_011522636.2:c.5004C>A	XP_011520938.1:p.Tyr1668Ter
XM_011522637.2:c.5001C>A	XP_011520939.1:p.Tyr1667Ter
XM_011522638.2:c.5166C>A	XP_011520940.2:p.Tyr1722Ter
XM_011522639.2:c.4875C>A	XP_011520941.1:p.Tyr1625Ter
XM_011522640.2:c.4872C>A	XP_011520942.1:p.Tyr1624Ter
XM_017023615.1:c.4947C>A	XP_016879104.1:p.Tyr1649Ter
XM_017023616.1:c.4818C>A	XP_016879105.1:p.Tyr1606Ter
XM_017023617.1:c.4914C>A	XP_016879106.1:p.Tyr1638Ter
XM_017023618.1:c.3660C>A	XP_016879107.1:p.Tyr1220Ter
XM_024450413.1:c.4749C>A	XP_024306181.1:p.Tyr1583Ter
NM_000548.5:c.4950C>A MANE Select	NP_000539.2:p.Tyr1650Ter
NM_001370404.1:c.4818C>A	NP_001357333.1:p.Tyr1606Ter
NM_001370405.1:c.4821C>A	NP_001357334.1:p.Tyr1607Ter
NM_001077183.3:c.4749C>A	NP_001070651.1:p.Tyr1583Ter
NM_001114382.3:c.4881C>A	NP_001107854.1:p.Tyr1627Ter
NM_001318827.2:c.4641C>A	NP_001305756.1:p.Tyr1547Ter
NM_001318829.2:c.4605C>A	NP_001305758.1:p.Tyr1535Ter
NM_001318831.2:c.4218C>A	NP_001305760.1:p.Tyr1406Ter
NM_001318832.2:c.4782C>A	NP_001305761.1:p.Tyr1594Ter
NM_001363528.2:c.4752C>A	NP_001350457.1:p.Tyr1584Ter
NM_021055.3:c.4821C>A	NP_066399.2:p.Tyr1607Ter