Canonical Allele Identifier: CA019518

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49549
• ClinVar RCV Id: RCV000042809 ; RCV000810322
• dbSNP Id: rs45517308
• MyVariant Identifiers: chr16:g.2131735C>A (hg19) ; chr16:g.2081734C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081734C>A , CM000678.2:g.2081734C>A	GRCh38
NC_000016.9:g.2131735C>A , CM000678.1:g.2131735C>A	GRCh37
NC_000016.8:g.2071736C>A	NCBI36
NG_005895.1:g.37429C>A , LRG_487:g.37429C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2168C>A	ENSP00000455997.2:n.*2168C>A
ENST00000642206.2:c.3666C>A	ENSP00000495146.2:p.Tyr1222Ter
ENST00000642365.2:c.3747C>A	ENSP00000495459.2:p.Tyr1249Ter
ENST00000644417.2:c.*4199C>A	ENSP00000493912.2:n.*4199C>A
ENST00000646464.2:c.*4672C>A	ENSP00000496610.2:n.*4672C>A
ENST00000219476.9:c.3750C>A MANE Select	ENSP00000219476.3:p.Tyr1250Ter
ENST00000350773.9:c.3750C>A	ENSP00000344383.4:p.Tyr1250Ter
ENST00000401874.7:c.3618C>A	ENSP00000384468.2:p.Tyr1206Ter
ENST00000568454.6:c.3651C>A	ENSP00000454487.1:p.Tyr1217Ter
ENST00000642365.1:c.2404C>A
ENST00000642561.1:c.3621C>A	ENSP00000495099.1:p.Tyr1207Ter
ENST00000642797.1:c.3621C>A	ENSP00000493846.1:p.Tyr1207Ter
ENST00000642936.1:c.3618C>A	ENSP00000494514.1:p.Tyr1206Ter
ENST00000643088.1:c.3618C>A	ENSP00000494747.1:p.Tyr1206Ter
ENST00000643426.1:n.1398C>A
ENST00000643533.1:n.260C>A
ENST00000643946.1:c.3750C>A	ENSP00000495927.1:p.Tyr1250Ter
ENST00000644043.1:c.3621C>A	ENSP00000496262.1:p.Tyr1207Ter
ENST00000644329.1:c.3618C>A	ENSP00000496611.1:p.Tyr1206Ter
ENST00000644335.1:c.3621C>A	ENSP00000496317.1:p.Tyr1207Ter
ENST00000644399.1:c.3740C>A
ENST00000644722.1:n.896C>A
ENST00000645024.1:n.1903C>A
ENST00000646388.1:c.3750C>A	ENSP00000495921.1:p.Tyr1250Ter
ENST00000646634.1:n.2634C>A
ENST00000646674.1:n.365C>A
ENST00000647042.1:n.1042C>A
ENST00000647180.1:n.230C>A
ENST00000219476.7:c.3750C>A	ENSP00000219476.3:p.Tyr1250Ter
ENST00000350773.8:c.3750C>A	ENSP00000344383.4:p.Tyr1250Ter
ENST00000382538.10:c.3474C>A	ENSP00000371978.6:p.Tyr1158Ter
ENST00000401874.6:c.3618C>A	ENSP00000384468.2:p.Tyr1206Ter
ENST00000439117.6:c.*2917C>A	ENSP00000406980.2:n.*2917C>A
ENST00000439673.6:c.3510C>A	ENSP00000399232.2:p.Tyr1170Ter
ENST00000497886.5:n.1577C>A
ENST00000568454.5:c.3651C>A	ENSP00000454487.1:p.Tyr1217Ter
NM_000548.3:c.3750C>A , LRG_487t1:c.3750C>A	NP_000539.2:p.Tyr1250Ter
NM_001077183.1:c.3618C>A	NP_001070651.1:p.Tyr1206Ter
NM_001114382.1:c.3750C>A	NP_001107854.1:p.Tyr1250Ter
XM_005255529.3:c.3621C>A	XP_005255586.2:p.Tyr1207Ter
XM_005255531.3:c.3621C>A	XP_005255588.2:p.Tyr1207Ter
XM_011522636.1:c.3750C>A	XP_011520938.1:p.Tyr1250Ter
XM_011522637.1:c.3747C>A	XP_011520939.1:p.Tyr1249Ter
XM_011522638.1:c.3639C>A	XP_011520940.1:p.Tyr1213Ter
XM_011522639.1:c.3621C>A	XP_011520941.1:p.Tyr1207Ter
XM_011522640.1:c.3618C>A	XP_011520942.1:p.Tyr1206Ter
XM_011522641.1:c.3510C>A	XP_011520943.1:p.Tyr1170Ter
NM_000548.4:c.3750C>A	NP_000539.2:p.Tyr1250Ter
NM_001077183.2:c.3618C>A	NP_001070651.1:p.Tyr1206Ter
NM_001114382.2:c.3750C>A	NP_001107854.1:p.Tyr1250Ter
NM_001318827.1:c.3510C>A	NP_001305756.1:p.Tyr1170Ter
NM_001318829.1:c.3474C>A	NP_001305758.1:p.Tyr1158Ter
NM_001318831.1:c.3018C>A	NP_001305760.1:p.Tyr1006Ter
NM_001318832.1:c.3651C>A	NP_001305761.1:p.Tyr1217Ter
NM_001363528.1:c.3621C>A	NP_001350457.1:p.Tyr1207Ter
NM_021055.2:c.3621C>A	NP_066399.2:p.Tyr1207Ter
XM_005255531.4:c.3621C>A	XP_005255588.2:p.Tyr1207Ter
XM_011522636.2:c.3750C>A	XP_011520938.1:p.Tyr1250Ter
XM_011522637.2:c.3747C>A	XP_011520939.1:p.Tyr1249Ter
XM_011522638.2:c.3912C>A	XP_011520940.2:p.Tyr1304Ter
XM_011522639.2:c.3621C>A	XP_011520941.1:p.Tyr1207Ter
XM_011522640.2:c.3618C>A	XP_011520942.1:p.Tyr1206Ter
XM_017023615.1:c.3747C>A	XP_016879104.1:p.Tyr1249Ter
XM_017023616.1:c.3618C>A	XP_016879105.1:p.Tyr1206Ter
XM_017023617.1:c.3783C>A	XP_016879106.1:p.Tyr1261Ter
XM_017023618.1:c.2406C>A	XP_016879107.1:p.Tyr802Ter
XM_024450413.1:c.3618C>A	XP_024306181.1:p.Tyr1206Ter
NM_000548.5:c.3750C>A MANE Select	NP_000539.2:p.Tyr1250Ter
NM_001370404.1:c.3618C>A	NP_001357333.1:p.Tyr1206Ter
NM_001370405.1:c.3621C>A	NP_001357334.1:p.Tyr1207Ter
NM_001077183.3:c.3618C>A	NP_001070651.1:p.Tyr1206Ter
NM_001114382.3:c.3750C>A	NP_001107854.1:p.Tyr1250Ter
NM_001318827.2:c.3510C>A	NP_001305756.1:p.Tyr1170Ter
NM_001318829.2:c.3474C>A	NP_001305758.1:p.Tyr1158Ter
NM_001318831.2:c.3018C>A	NP_001305760.1:p.Tyr1006Ter
NM_001318832.2:c.3651C>A	NP_001305761.1:p.Tyr1217Ter
NM_001363528.2:c.3621C>A	NP_001350457.1:p.Tyr1207Ter
NM_021055.3:c.3621C>A	NP_066399.2:p.Tyr1207Ter