Canonical Allele Identifier: CA019450

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49534
• ClinVar RCV Id: RCV000042794 ; RCV002453339
• dbSNP Id: rs137854393
• MyVariant Identifiers: chr16:g.2131648_2131649del (hg19) ; chr16:g.2081647_2081648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081647_2081648del , CM000678.2:g.2081647_2081648del	GRCh38
NC_000016.9:g.2131648_2131649del , CM000678.1:g.2131648_2131649del	GRCh37
NC_000016.8:g.2071649_2071650del	NCBI36
NG_005895.1:g.37342_37343del , LRG_487:g.37342_37343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2081_*2082del	ENSP00000455997.2:n.*2081_*2082del
ENST00000642206.2:c.3579_3580del	ENSP00000495146.2:p.Asp1194HisfsTer11
ENST00000642365.2:c.3660_3661del	ENSP00000495459.2:p.Asp1221HisfsTer11
ENST00000644417.2:c.*4112_*4113del	ENSP00000493912.2:n.*4112_*4113del
ENST00000646464.2:c.*4585_*4586del	ENSP00000496610.2:n.*4585_*4586del
ENST00000219476.9:c.3663_3664del MANE Select	ENSP00000219476.3:p.Asp1222HisfsTer11
ENST00000350773.9:c.3663_3664del	ENSP00000344383.4:p.Asp1222HisfsTer11
ENST00000401874.7:c.3531_3532del	ENSP00000384468.2:p.Asp1178HisfsTer11
ENST00000568454.6:c.3564_3565del	ENSP00000454487.1:p.Asp1189HisfsTer11
ENST00000642365.1:c.2317_2318del
ENST00000642561.1:c.3534_3535del	ENSP00000495099.1:p.Asp1179HisfsTer11
ENST00000642797.1:c.3534_3535del	ENSP00000493846.1:p.Asp1179HisfsTer11
ENST00000642936.1:c.3531_3532del	ENSP00000494514.1:p.Asp1178HisfsTer11
ENST00000643088.1:c.3531_3532del	ENSP00000494747.1:p.Asp1178HisfsTer11
ENST00000643426.1:n.1311_1312del
ENST00000643533.1:n.173_174del
ENST00000643946.1:c.3663_3664del	ENSP00000495927.1:p.Asp1222HisfsTer11
ENST00000644043.1:c.3534_3535del	ENSP00000496262.1:p.Asp1179HisfsTer11
ENST00000644329.1:c.3531_3532del	ENSP00000496611.1:p.Asp1178HisfsTer11
ENST00000644335.1:c.3534_3535del	ENSP00000496317.1:p.Asp1179HisfsTer11
ENST00000644399.1:c.3653_3654del
ENST00000644722.1:n.809_810del
ENST00000645024.1:n.1816_1817del
ENST00000646388.1:c.3663_3664del	ENSP00000495921.1:p.Asp1222HisfsTer11
ENST00000646634.1:n.2547_2548del
ENST00000646674.1:n.278_279del
ENST00000647042.1:n.955_956del
ENST00000647180.1:n.143_144del
ENST00000219476.7:c.3663_3664del	ENSP00000219476.3:p.Asp1222HisfsTer11
ENST00000350773.8:c.3663_3664del	ENSP00000344383.4:p.Asp1222HisfsTer11
ENST00000382538.10:c.3387_3388del	ENSP00000371978.6:p.Asp1130HisfsTer11
ENST00000401874.6:c.3531_3532del	ENSP00000384468.2:p.Asp1178HisfsTer11
ENST00000439117.6:c.*2830_*2831del	ENSP00000406980.2:n.*2830_*2831del
ENST00000439673.6:c.3423_3424del	ENSP00000399232.2:p.Asp1142HisfsTer11
ENST00000497886.5:n.1490_1491del
ENST00000568454.5:c.3564_3565del	ENSP00000454487.1:p.Asp1189HisfsTer11
NM_000548.3:c.3663_3664del , LRG_487t1:c.3663_3664del	NP_000539.2:p.Asp1222HisfsTer11
NM_001077183.1:c.3531_3532del	NP_001070651.1:p.Asp1178HisfsTer11
NM_001114382.1:c.3663_3664del	NP_001107854.1:p.Asp1222HisfsTer11
XM_005255529.3:c.3534_3535del	XP_005255586.2:p.Asp1179HisfsTer11
XM_005255531.3:c.3534_3535del	XP_005255588.2:p.Asp1179HisfsTer11
XM_011522636.1:c.3663_3664del	XP_011520938.1:p.Asp1222HisfsTer11
XM_011522637.1:c.3660_3661del	XP_011520939.1:p.Asp1221HisfsTer11
XM_011522638.1:c.3552_3553del	XP_011520940.1:p.Asp1185HisfsTer11
XM_011522639.1:c.3534_3535del	XP_011520941.1:p.Asp1179HisfsTer11
XM_011522640.1:c.3531_3532del	XP_011520942.1:p.Asp1178HisfsTer11
XM_011522641.1:c.3423_3424del	XP_011520943.1:p.Asp1142HisfsTer11
NM_000548.4:c.3663_3664del	NP_000539.2:p.Asp1222HisfsTer11
NM_001077183.2:c.3531_3532del	NP_001070651.1:p.Asp1178HisfsTer11
NM_001114382.2:c.3663_3664del	NP_001107854.1:p.Asp1222HisfsTer11
NM_001318827.1:c.3423_3424del	NP_001305756.1:p.Asp1142HisfsTer11
NM_001318829.1:c.3387_3388del	NP_001305758.1:p.Asp1130HisfsTer11
NM_001318831.1:c.2931_2932del	NP_001305760.1:p.Asp978HisfsTer11
NM_001318832.1:c.3564_3565del	NP_001305761.1:p.Asp1189HisfsTer11
NM_001363528.1:c.3534_3535del	NP_001350457.1:p.Asp1179HisfsTer11
NM_021055.2:c.3534_3535del	NP_066399.2:p.Asp1179HisfsTer11
XM_005255531.4:c.3534_3535del	XP_005255588.2:p.Asp1179HisfsTer11
XM_011522636.2:c.3663_3664del	XP_011520938.1:p.Asp1222HisfsTer11
XM_011522637.2:c.3660_3661del	XP_011520939.1:p.Asp1221HisfsTer11
XM_011522638.2:c.3825_3826del	XP_011520940.2:p.Asp1276HisfsTer11
XM_011522639.2:c.3534_3535del	XP_011520941.1:p.Asp1179HisfsTer11
XM_011522640.2:c.3531_3532del	XP_011520942.1:p.Asp1178HisfsTer11
XM_017023615.1:c.3660_3661del	XP_016879104.1:p.Asp1221HisfsTer11
XM_017023616.1:c.3531_3532del	XP_016879105.1:p.Asp1178HisfsTer11
XM_017023617.1:c.3696_3697del	XP_016879106.1:p.Asp1233HisfsTer11
XM_017023618.1:c.2319_2320del	XP_016879107.1:p.Asp774HisfsTer11
XM_024450413.1:c.3531_3532del	XP_024306181.1:p.Asp1178HisfsTer11
NM_000548.5:c.3663_3664del MANE Select	NP_000539.2:p.Asp1222HisfsTer11
NM_001370404.1:c.3531_3532del	NP_001357333.1:p.Asp1178HisfsTer11
NM_001370405.1:c.3534_3535del	NP_001357334.1:p.Asp1179HisfsTer11
NM_001077183.3:c.3531_3532del	NP_001070651.1:p.Asp1178HisfsTer11
NM_001114382.3:c.3663_3664del	NP_001107854.1:p.Asp1222HisfsTer11
NM_001318827.2:c.3423_3424del	NP_001305756.1:p.Asp1142HisfsTer11
NM_001318829.2:c.3387_3388del	NP_001305758.1:p.Asp1130HisfsTer11
NM_001318831.2:c.2931_2932del	NP_001305760.1:p.Asp978HisfsTer11
NM_001318832.2:c.3564_3565del	NP_001305761.1:p.Asp1189HisfsTer11
NM_001363528.2:c.3534_3535del	NP_001350457.1:p.Asp1179HisfsTer11
NM_021055.3:c.3534_3535del	NP_066399.2:p.Asp1179HisfsTer11