Canonical Allele Identifier: CA394291987

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2131636C>G (hg19) ; chr16:g.2081635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081635C>G , CM000678.2:g.2081635C>G	GRCh38
NC_000016.9:g.2131636C>G , CM000678.1:g.2131636C>G	GRCh37
NC_000016.8:g.2071637C>G	NCBI36
NG_005895.1:g.37330C>G , LRG_487:g.37330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2069C>G	ENSP00000455997.2:n.*2069C>G
ENST00000642206.2:c.3567C>G	ENSP00000495146.2:p.Ser1189Arg
ENST00000642365.2:c.3648C>G	ENSP00000495459.2:p.Ser1216Arg
ENST00000644417.2:c.*4100C>G	ENSP00000493912.2:n.*4100C>G
ENST00000646464.2:c.*4573C>G	ENSP00000496610.2:n.*4573C>G
ENST00000219476.9:c.3651C>G MANE Select	ENSP00000219476.3:p.Ser1217Arg
ENST00000350773.9:c.3651C>G	ENSP00000344383.4:p.Ser1217Arg
ENST00000401874.7:c.3519C>G	ENSP00000384468.2:p.Ser1173Arg
ENST00000568454.6:c.3552C>G	ENSP00000454487.1:p.Ser1184Arg
ENST00000642365.1:c.2305C>G
ENST00000642561.1:c.3522C>G	ENSP00000495099.1:p.Ser1174Arg
ENST00000642797.1:c.3522C>G	ENSP00000493846.1:p.Ser1174Arg
ENST00000642936.1:c.3519C>G	ENSP00000494514.1:p.Ser1173Arg
ENST00000643088.1:c.3519C>G	ENSP00000494747.1:p.Ser1173Arg
ENST00000643426.1:n.1299C>G
ENST00000643533.1:n.161C>G
ENST00000643946.1:c.3651C>G	ENSP00000495927.1:p.Ser1217Arg
ENST00000644043.1:c.3522C>G	ENSP00000496262.1:p.Ser1174Arg
ENST00000644329.1:c.3519C>G	ENSP00000496611.1:p.Ser1173Arg
ENST00000644335.1:c.3522C>G	ENSP00000496317.1:p.Ser1174Arg
ENST00000644399.1:c.3641C>G
ENST00000644722.1:n.797C>G
ENST00000645024.1:n.1804C>G
ENST00000646388.1:c.3651C>G	ENSP00000495921.1:p.Ser1217Arg
ENST00000646634.1:n.2535C>G
ENST00000646674.1:n.266C>G
ENST00000647042.1:n.943C>G
ENST00000647180.1:n.131C>G
ENST00000219476.7:c.3651C>G	ENSP00000219476.3:p.Ser1217Arg
ENST00000350773.8:c.3651C>G	ENSP00000344383.4:p.Ser1217Arg
ENST00000382538.10:c.3375C>G	ENSP00000371978.6:p.Ser1125Arg
ENST00000401874.6:c.3519C>G	ENSP00000384468.2:p.Ser1173Arg
ENST00000439117.6:c.*2818C>G	ENSP00000406980.2:n.*2818C>G
ENST00000439673.6:c.3411C>G	ENSP00000399232.2:p.Ser1137Arg
ENST00000497886.5:n.1478C>G
ENST00000568454.5:c.3552C>G	ENSP00000454487.1:p.Ser1184Arg
NM_000548.3:c.3651C>G , LRG_487t1:c.3651C>G	NP_000539.2:p.Ser1217Arg
NM_001077183.1:c.3519C>G	NP_001070651.1:p.Ser1173Arg
NM_001114382.1:c.3651C>G	NP_001107854.1:p.Ser1217Arg
XM_005255529.3:c.3522C>G	XP_005255586.2:p.Ser1174Arg
XM_005255531.3:c.3522C>G	XP_005255588.2:p.Ser1174Arg
XM_011522636.1:c.3651C>G	XP_011520938.1:p.Ser1217Arg
XM_011522637.1:c.3648C>G	XP_011520939.1:p.Ser1216Arg
XM_011522638.1:c.3540C>G	XP_011520940.1:p.Ser1180Arg
XM_011522639.1:c.3522C>G	XP_011520941.1:p.Ser1174Arg
XM_011522640.1:c.3519C>G	XP_011520942.1:p.Ser1173Arg
XM_011522641.1:c.3411C>G	XP_011520943.1:p.Ser1137Arg
NM_000548.4:c.3651C>G	NP_000539.2:p.Ser1217Arg
NM_001077183.2:c.3519C>G	NP_001070651.1:p.Ser1173Arg
NM_001114382.2:c.3651C>G	NP_001107854.1:p.Ser1217Arg
NM_001318827.1:c.3411C>G	NP_001305756.1:p.Ser1137Arg
NM_001318829.1:c.3375C>G	NP_001305758.1:p.Ser1125Arg
NM_001318831.1:c.2919C>G	NP_001305760.1:p.Ser973Arg
NM_001318832.1:c.3552C>G	NP_001305761.1:p.Ser1184Arg
NM_001363528.1:c.3522C>G	NP_001350457.1:p.Ser1174Arg
NM_021055.2:c.3522C>G	NP_066399.2:p.Ser1174Arg
XM_005255531.4:c.3522C>G	XP_005255588.2:p.Ser1174Arg
XM_011522636.2:c.3651C>G	XP_011520938.1:p.Ser1217Arg
XM_011522637.2:c.3648C>G	XP_011520939.1:p.Ser1216Arg
XM_011522638.2:c.3813C>G	XP_011520940.2:p.Ser1271Arg
XM_011522639.2:c.3522C>G	XP_011520941.1:p.Ser1174Arg
XM_011522640.2:c.3519C>G	XP_011520942.1:p.Ser1173Arg
XM_017023615.1:c.3648C>G	XP_016879104.1:p.Ser1216Arg
XM_017023616.1:c.3519C>G	XP_016879105.1:p.Ser1173Arg
XM_017023617.1:c.3684C>G	XP_016879106.1:p.Ser1228Arg
XM_017023618.1:c.2307C>G	XP_016879107.1:p.Ser769Arg
XM_024450413.1:c.3519C>G	XP_024306181.1:p.Ser1173Arg
NM_000548.5:c.3651C>G MANE Select	NP_000539.2:p.Ser1217Arg
NM_001370404.1:c.3519C>G	NP_001357333.1:p.Ser1173Arg
NM_001370405.1:c.3522C>G	NP_001357334.1:p.Ser1174Arg
NM_001077183.3:c.3519C>G	NP_001070651.1:p.Ser1173Arg
NM_001114382.3:c.3651C>G	NP_001107854.1:p.Ser1217Arg
NM_001318827.2:c.3411C>G	NP_001305756.1:p.Ser1137Arg
NM_001318829.2:c.3375C>G	NP_001305758.1:p.Ser1125Arg
NM_001318831.2:c.2919C>G	NP_001305760.1:p.Ser973Arg
NM_001318832.2:c.3552C>G	NP_001305761.1:p.Ser1184Arg
NM_001363528.2:c.3522C>G	NP_001350457.1:p.Ser1174Arg
NM_021055.3:c.3522C>G	NP_066399.2:p.Ser1174Arg