Canonical Allele Identifier: CA019287

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50109
• ClinVar RCV Id: RCV000043376 ; RCV001852903
• dbSNP Id: rs45517298
• MyVariant Identifiers: chr16:g.2130342C>T (hg19) ; chr16:g.2080341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2080341C>T , CM000678.2:g.2080341C>T	GRCh38
NC_000016.9:g.2130342C>T , CM000678.1:g.2130342C>T	GRCh37
NC_000016.8:g.2070343C>T	NCBI36
NG_005895.1:g.36036C>T , LRG_487:g.36036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1992C>T	ENSP00000455997.2:n.*1992C>T
ENST00000642206.2:c.3490C>T	ENSP00000495146.2:p.Gln1164Ter
ENST00000642365.2:c.3571C>T	ENSP00000495459.2:p.Gln1191Ter
ENST00000644417.2:c.*4023C>T	ENSP00000493912.2:n.*4023C>T
ENST00000646464.2:c.*4496C>T	ENSP00000496610.2:n.*4496C>T
ENST00000219476.9:c.3574C>T MANE Select	ENSP00000219476.3:p.Gln1192Ter
ENST00000350773.9:c.3574C>T	ENSP00000344383.4:p.Gln1192Ter
ENST00000401874.7:c.3442C>T	ENSP00000384468.2:p.Gln1148Ter
ENST00000568454.6:c.3475C>T	ENSP00000454487.1:p.Gln1159Ter
ENST00000642365.1:c.2228C>T
ENST00000642561.1:c.3445C>T	ENSP00000495099.1:p.Gln1149Ter
ENST00000642797.1:c.3445C>T	ENSP00000493846.1:p.Gln1149Ter
ENST00000642936.1:c.3442C>T	ENSP00000494514.1:p.Gln1148Ter
ENST00000643088.1:c.3442C>T	ENSP00000494747.1:p.Gln1148Ter
ENST00000643426.1:n.5C>T
ENST00000643946.1:c.3574C>T	ENSP00000495927.1:p.Gln1192Ter
ENST00000644043.1:c.3445C>T	ENSP00000496262.1:p.Gln1149Ter
ENST00000644329.1:c.3442C>T	ENSP00000496611.1:p.Gln1148Ter
ENST00000644335.1:c.3445C>T	ENSP00000496317.1:p.Gln1149Ter
ENST00000644399.1:c.3564C>T
ENST00000644722.1:n.720C>T
ENST00000645024.1:n.1727C>T
ENST00000646388.1:c.3574C>T	ENSP00000495921.1:p.Gln1192Ter
ENST00000646634.1:n.2458C>T
ENST00000646674.1:n.189C>T
ENST00000647042.1:n.866C>T
ENST00000647180.1:n.54C>T
ENST00000219476.7:c.3574C>T	ENSP00000219476.3:p.Gln1192Ter
ENST00000350773.8:c.3574C>T	ENSP00000344383.4:p.Gln1192Ter
ENST00000382538.10:c.3298C>T	ENSP00000371978.6:p.Gln1100Ter
ENST00000401874.6:c.3442C>T	ENSP00000384468.2:p.Gln1148Ter
ENST00000439117.6:c.*2741C>T	ENSP00000406980.2:n.*2741C>T
ENST00000439673.6:c.3334C>T	ENSP00000399232.2:p.Gln1112Ter
ENST00000497886.5:n.1401C>T
ENST00000568454.5:c.3475C>T	ENSP00000454487.1:p.Gln1159Ter
NM_000548.3:c.3574C>T , LRG_487t1:c.3574C>T	NP_000539.2:p.Gln1192Ter
NM_001077183.1:c.3442C>T	NP_001070651.1:p.Gln1148Ter
NM_001114382.1:c.3574C>T	NP_001107854.1:p.Gln1192Ter
XM_005255529.3:c.3445C>T	XP_005255586.2:p.Gln1149Ter
XM_005255531.3:c.3445C>T	XP_005255588.2:p.Gln1149Ter
XM_011522636.1:c.3574C>T	XP_011520938.1:p.Gln1192Ter
XM_011522637.1:c.3571C>T	XP_011520939.1:p.Gln1191Ter
XM_011522638.1:c.3463C>T	XP_011520940.1:p.Gln1155Ter
XM_011522639.1:c.3445C>T	XP_011520941.1:p.Gln1149Ter
XM_011522640.1:c.3442C>T	XP_011520942.1:p.Gln1148Ter
XM_011522641.1:c.3334C>T	XP_011520943.1:p.Gln1112Ter
NM_000548.4:c.3574C>T	NP_000539.2:p.Gln1192Ter
NM_001077183.2:c.3442C>T	NP_001070651.1:p.Gln1148Ter
NM_001114382.2:c.3574C>T	NP_001107854.1:p.Gln1192Ter
NM_001318827.1:c.3334C>T	NP_001305756.1:p.Gln1112Ter
NM_001318829.1:c.3298C>T	NP_001305758.1:p.Gln1100Ter
NM_001318831.1:c.2842C>T	NP_001305760.1:p.Gln948Ter
NM_001318832.1:c.3475C>T	NP_001305761.1:p.Gln1159Ter
NM_001363528.1:c.3445C>T	NP_001350457.1:p.Gln1149Ter
NM_021055.2:c.3445C>T	NP_066399.2:p.Gln1149Ter
XM_005255531.4:c.3445C>T	XP_005255588.2:p.Gln1149Ter
XM_011522636.2:c.3574C>T	XP_011520938.1:p.Gln1192Ter
XM_011522637.2:c.3571C>T	XP_011520939.1:p.Gln1191Ter
XM_011522638.2:c.3736C>T	XP_011520940.2:p.Gln1246Ter
XM_011522639.2:c.3445C>T	XP_011520941.1:p.Gln1149Ter
XM_011522640.2:c.3442C>T	XP_011520942.1:p.Gln1148Ter
XM_017023615.1:c.3571C>T	XP_016879104.1:p.Gln1191Ter
XM_017023616.1:c.3442C>T	XP_016879105.1:p.Gln1148Ter
XM_017023617.1:c.3607C>T	XP_016879106.1:p.Gln1203Ter
XM_017023618.1:c.2230C>T	XP_016879107.1:p.Gln744Ter
XM_024450413.1:c.3442C>T	XP_024306181.1:p.Gln1148Ter
NM_000548.5:c.3574C>T MANE Select	NP_000539.2:p.Gln1192Ter
NM_001370404.1:c.3442C>T	NP_001357333.1:p.Gln1148Ter
NM_001370405.1:c.3445C>T	NP_001357334.1:p.Gln1149Ter
NM_001077183.3:c.3442C>T	NP_001070651.1:p.Gln1148Ter
NM_001114382.3:c.3574C>T	NP_001107854.1:p.Gln1192Ter
NM_001318827.2:c.3334C>T	NP_001305756.1:p.Gln1112Ter
NM_001318829.2:c.3298C>T	NP_001305758.1:p.Gln1100Ter
NM_001318831.2:c.2842C>T	NP_001305760.1:p.Gln948Ter
NM_001318832.2:c.3475C>T	NP_001305761.1:p.Gln1159Ter
NM_001363528.2:c.3445C>T	NP_001350457.1:p.Gln1149Ter
NM_021055.3:c.3445C>T	NP_066399.2:p.Gln1149Ter