Canonical Allele Identifier: CA013813

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49142
• ClinVar RCV Id: RCV000042397 ; RCV000644081 ; RCV000760655
• dbSNP Id: rs45469099
• MyVariant Identifiers: chr16:g.2110806C>T (hg19) ; chr16:g.2060805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2060805C>T , CM000678.2:g.2060805C>T	GRCh38
NC_000016.9:g.2110806C>T , CM000678.1:g.2110806C>T	GRCh37
NC_000016.8:g.2050807C>T	NCBI36
NG_005895.1:g.16500C>T , LRG_487:g.16500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.1111C>T	ENSP00000455997.2:p.Gln371Ter
ENST00000642206.2:c.1156C>T	ENSP00000495146.2:p.Gln386Ter
ENST00000642365.2:c.1111C>T	ENSP00000495459.2:p.Gln371Ter
ENST00000644417.2:c.*548C>T	ENSP00000493912.2:n.*548C>T
ENST00000646464.2:c.*716C>T	ENSP00000496610.2:n.*716C>T
ENST00000219476.9:c.1111C>T MANE Select	ENSP00000219476.3:p.Gln371Ter
ENST00000350773.9:c.1111C>T	ENSP00000344383.4:p.Gln371Ter
ENST00000401874.7:c.1111C>T	ENSP00000384468.2:p.Gln371Ter
ENST00000467949.2:n.428-1692C>T
ENST00000568454.6:c.1144C>T	ENSP00000454487.1:p.Gln382Ter
ENST00000642561.1:c.1111C>T	ENSP00000495099.1:p.Gln371Ter
ENST00000642797.1:c.1111C>T	ENSP00000493846.1:p.Gln371Ter
ENST00000642812.1:n.1156C>T
ENST00000642936.1:c.1111C>T	ENSP00000494514.1:p.Gln371Ter
ENST00000643088.1:c.1111C>T	ENSP00000494747.1:p.Gln371Ter
ENST00000643149.1:n.2064C>T
ENST00000643298.1:c.*613C>T	ENSP00000494393.1:n.*613C>T
ENST00000643745.1:c.1111C>T	ENSP00000495948.1:p.Gln371Ter
ENST00000643946.1:c.1111C>T	ENSP00000495927.1:p.Gln371Ter
ENST00000644043.1:c.1111C>T	ENSP00000496262.1:p.Gln371Ter
ENST00000644135.1:c.1111C>T	ENSP00000495644.1:p.Gln371Ter
ENST00000644222.1:n.1198C>T
ENST00000644329.1:c.1111C>T	ENSP00000496611.1:p.Gln371Ter
ENST00000644335.1:c.1111C>T	ENSP00000496317.1:p.Gln371Ter
ENST00000644399.1:c.1104C>T
ENST00000644665.1:n.1228C>T
ENST00000645591.1:n.2082C>T
ENST00000646388.1:c.1111C>T	ENSP00000495921.1:p.Gln371Ter
ENST00000646823.1:n.1525C>T
ENST00000647234.1:n.1812C>T
ENST00000647242.1:n.1779C>T
ENST00000219476.7:c.1111C>T	ENSP00000219476.3:p.Gln371Ter
ENST00000350773.8:c.1111C>T	ENSP00000344383.4:p.Gln371Ter
ENST00000382538.10:c.964C>T	ENSP00000371978.6:p.Gln322Ter
ENST00000401874.6:c.1111C>T	ENSP00000384468.2:p.Gln371Ter
ENST00000439117.6:c.*410C>T	ENSP00000406980.2:n.*410C>T
ENST00000439673.6:c.1000C>T	ENSP00000399232.2:p.Gln334Ter
ENST00000467949.1:c.412-1692C>T	ENSP00000454997.1:n.412-1692C>T
ENST00000568454.5:c.1144C>T	ENSP00000454487.1:p.Gln382Ter
NM_000548.3:c.1111C>T , LRG_487t1:c.1111C>T	NP_000539.2:p.Gln371Ter
NM_001077183.1:c.1111C>T	NP_001070651.1:p.Gln371Ter
NM_001114382.1:c.1111C>T	NP_001107854.1:p.Gln371Ter
XM_005255529.3:c.1111C>T	XP_005255586.2:p.Gln371Ter
XM_005255531.3:c.1111C>T	XP_005255588.2:p.Gln371Ter
XM_011522636.1:c.1111C>T	XP_011520938.1:p.Gln371Ter
XM_011522637.1:c.1111C>T	XP_011520939.1:p.Gln371Ter
XM_011522638.1:c.1000C>T	XP_011520940.1:p.Gln334Ter
XM_011522639.1:c.1111C>T	XP_011520941.1:p.Gln371Ter
XM_011522640.1:c.1111C>T	XP_011520942.1:p.Gln371Ter
XM_011522641.1:c.1000C>T	XP_011520943.1:p.Gln334Ter
NM_000548.4:c.1111C>T	NP_000539.2:p.Gln371Ter
NM_001077183.2:c.1111C>T	NP_001070651.1:p.Gln371Ter
NM_001114382.2:c.1111C>T	NP_001107854.1:p.Gln371Ter
NM_001318827.1:c.1000C>T	NP_001305756.1:p.Gln334Ter
NM_001318829.1:c.964C>T	NP_001305758.1:p.Gln322Ter
NM_001318831.1:c.511C>T	NP_001305760.1:p.Gln171Ter
NM_001318832.1:c.1144C>T	NP_001305761.1:p.Gln382Ter
NM_001363528.1:c.1111C>T	NP_001350457.1:p.Gln371Ter
NM_021055.2:c.1111C>T	NP_066399.2:p.Gln371Ter
XM_005255531.4:c.1111C>T	XP_005255588.2:p.Gln371Ter
XM_011522636.2:c.1111C>T	XP_011520938.1:p.Gln371Ter
XM_011522637.2:c.1111C>T	XP_011520939.1:p.Gln371Ter
XM_011522638.2:c.1273C>T	XP_011520940.2:p.Gln425Ter
XM_011522639.2:c.1111C>T	XP_011520941.1:p.Gln371Ter
XM_011522640.2:c.1111C>T	XP_011520942.1:p.Gln371Ter
XM_017023615.1:c.1111C>T	XP_016879104.1:p.Gln371Ter
XM_017023616.1:c.1111C>T	XP_016879105.1:p.Gln371Ter
XM_017023617.1:c.1273C>T	XP_016879106.1:p.Gln425Ter
XM_017023618.1:c.-321C>T	XP_016879107.1:n.-321C>T
XM_024450413.1:c.1111C>T	XP_024306181.1:p.Gln371Ter
NM_000548.5:c.1111C>T MANE Select	NP_000539.2:p.Gln371Ter
NM_001370404.1:c.1111C>T	NP_001357333.1:p.Gln371Ter
NM_001370405.1:c.1111C>T	NP_001357334.1:p.Gln371Ter
NM_001077183.3:c.1111C>T	NP_001070651.1:p.Gln371Ter
NM_001114382.3:c.1111C>T	NP_001107854.1:p.Gln371Ter
NM_001318827.2:c.1000C>T	NP_001305756.1:p.Gln334Ter
NM_001318829.2:c.964C>T	NP_001305758.1:p.Gln322Ter
NM_001318831.2:c.511C>T	NP_001305760.1:p.Gln171Ter
NM_001318832.2:c.1144C>T	NP_001305761.1:p.Gln382Ter
NM_001363528.2:c.1111C>T	NP_001350457.1:p.Gln371Ter
NM_021055.3:c.1111C>T	NP_066399.2:p.Gln371Ter