Canonical Allele Identifier: CA973768003

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1210005
• ClinVar RCV Id: RCV001579744 ; RCV002072290
• dbSNP Id: rs2090575419
• gnomAD v3: 16-2084935-T-TC
• gnomAD v4: 16-2084935-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084939dup , CM000678.2:g.2084939dup	GRCh38
NC_000016.9:g.2134940dup , CM000678.1:g.2134940dup	GRCh37
NC_000016.8:g.2074941dup	NCBI36
NG_005895.1:g.40634dup , LRG_487:g.40634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2843-12dup	ENSP00000455997.2:n.*2843-12dup
ENST00000642206.2:c.4341-12dup	ENSP00000495146.2:n.4341-12dup
ENST00000642365.2:c.4491-12dup	ENSP00000495459.2:n.4491-12dup
ENST00000644417.2:c.*4874-12dup	ENSP00000493912.2:n.*4874-12dup
ENST00000646464.2:c.*7243-12dup	ENSP00000496610.2:n.*7243-12dup
ENST00000219476.9:c.4494-12dup MANE Select	ENSP00000219476.3:n.4494-12dup
ENST00000350773.9:c.4425-12dup	ENSP00000344383.4:n.4425-12dup
ENST00000401874.7:c.4293-12dup	ENSP00000384468.2:n.4293-12dup
ENST00000568454.6:c.4326-12dup	ENSP00000454487.1:n.4326-12dup
ENST00000569110.2:c.717-12dup
ENST00000569930.2:n.2376-12dup
ENST00000642365.1:c.3148-12dup
ENST00000642561.1:c.4365-12dup	ENSP00000495099.1:n.4365-12dup
ENST00000642728.1:n.676-12dup
ENST00000642797.1:c.4296-12dup	ENSP00000493846.1:n.4296-12dup
ENST00000642936.1:c.4362-12dup	ENSP00000494514.1:n.4362-12dup
ENST00000643088.1:c.4293-12dup	ENSP00000494747.1:n.4293-12dup
ENST00000643177.1:n.508-12dup
ENST00000643426.1:n.2142-12dup
ENST00000643946.1:c.4425-12dup	ENSP00000495927.1:n.4425-12dup
ENST00000644043.1:c.4365-12dup	ENSP00000496262.1:n.4365-12dup
ENST00000644329.1:c.4293-12dup	ENSP00000496611.1:n.4293-12dup
ENST00000644335.1:c.4296-12dup	ENSP00000496317.1:n.4296-12dup
ENST00000644399.1:c.4415-12dup
ENST00000645024.1:n.2578-12dup
ENST00000646388.1:c.4494-12dup	ENSP00000495921.1:n.4494-12dup
ENST00000646634.1:n.3309-12dup
ENST00000646674.1:n.1746-12dup
ENST00000647042.1:n.1717-12dup
ENST00000647180.1:n.1607-12dup
ENST00000219476.7:c.4494-12dup	ENSP00000219476.3:n.4494-12dup
ENST00000350773.8:c.4425-12dup	ENSP00000344383.4:n.4425-12dup
ENST00000382538.10:c.4149-12dup	ENSP00000371978.6:n.4149-12dup
ENST00000401874.6:c.4293-12dup	ENSP00000384468.2:n.4293-12dup
ENST00000439117.6:c.*3661-12dup	ENSP00000406980.2:n.*3661-12dup
ENST00000439673.6:c.4185-12dup	ENSP00000399232.2:n.4185-12dup
ENST00000497886.5:n.2252-12dup
ENST00000568454.5:c.4326-12dup	ENSP00000454487.1:n.4326-12dup
ENST00000569110.1:c.676-12dup
ENST00000569930.1:n.1609-12dup
NM_000548.3:c.4494-12dup , LRG_487t1:c.4494-12dup	NP_000539.2:n.4494-12dup
NM_001077183.1:c.4293-12dup	NP_001070651.1:n.4293-12dup
NM_001114382.1:c.4425-12dup	NP_001107854.1:n.4425-12dup
XM_005255529.3:c.4365-12dup	XP_005255586.2:n.4365-12dup
XM_005255531.3:c.4296-12dup	XP_005255588.2:n.4296-12dup
XM_011522636.1:c.4548-12dup	XP_011520938.1:n.4548-12dup
XM_011522637.1:c.4545-12dup	XP_011520939.1:n.4545-12dup
XM_011522638.1:c.4437-12dup	XP_011520940.1:n.4437-12dup
XM_011522639.1:c.4419-12dup	XP_011520941.1:n.4419-12dup
XM_011522640.1:c.4416-12dup	XP_011520942.1:n.4416-12dup
XM_011522641.1:c.4185-12dup	XP_011520943.1:n.4185-12dup
NM_000548.4:c.4494-12dup	NP_000539.2:n.4494-12dup
NM_001077183.2:c.4293-12dup	NP_001070651.1:n.4293-12dup
NM_001114382.2:c.4425-12dup	NP_001107854.1:n.4425-12dup
NM_001318827.1:c.4185-12dup	NP_001305756.1:n.4185-12dup
NM_001318829.1:c.4149-12dup	NP_001305758.1:n.4149-12dup
NM_001318831.1:c.3762-12dup	NP_001305760.1:n.3762-12dup
NM_001318832.1:c.4326-12dup	NP_001305761.1:n.4326-12dup
NM_001363528.1:c.4296-12dup	NP_001350457.1:n.4296-12dup
NM_021055.2:c.4365-12dup	NP_066399.2:n.4365-12dup
XM_005255531.4:c.4296-12dup	XP_005255588.2:n.4296-12dup
XM_011522636.2:c.4548-12dup	XP_011520938.1:n.4548-12dup
XM_011522637.2:c.4545-12dup	XP_011520939.1:n.4545-12dup
XM_011522638.2:c.4710-12dup	XP_011520940.2:n.4710-12dup
XM_011522639.2:c.4419-12dup	XP_011520941.1:n.4419-12dup
XM_011522640.2:c.4416-12dup	XP_011520942.1:n.4416-12dup
XM_017023615.1:c.4491-12dup	XP_016879104.1:n.4491-12dup
XM_017023616.1:c.4362-12dup	XP_016879105.1:n.4362-12dup
XM_017023617.1:c.4458-12dup	XP_016879106.1:n.4458-12dup
XM_017023618.1:c.3204-12dup	XP_016879107.1:n.3204-12dup
XM_024450413.1:c.4293-12dup	XP_024306181.1:n.4293-12dup
NM_000548.5:c.4494-12dup MANE Select	NP_000539.2:n.4494-12dup
NM_001370404.1:c.4362-12dup	NP_001357333.1:n.4362-12dup
NM_001370405.1:c.4365-12dup	NP_001357334.1:n.4365-12dup
NM_001077183.3:c.4293-12dup	NP_001070651.1:n.4293-12dup
NM_001114382.3:c.4425-12dup	NP_001107854.1:n.4425-12dup
NM_001318827.2:c.4185-12dup	NP_001305756.1:n.4185-12dup
NM_001318829.2:c.4149-12dup	NP_001305758.1:n.4149-12dup
NM_001318831.2:c.3762-12dup	NP_001305760.1:n.3762-12dup
NM_001318832.2:c.4326-12dup	NP_001305761.1:n.4326-12dup
NM_001363528.2:c.4296-12dup	NP_001350457.1:n.4296-12dup
NM_021055.3:c.4365-12dup	NP_066399.2:n.4365-12dup