Canonical Allele Identifier: CA658658380

Gene: TSC2

Linked Data

• ClinVar Variation Id: 480860
• ClinVar RCV Id: RCV000568162 ; RCV002526810
• dbSNP Id: rs1555508570
• MyVariant Identifiers: chr16:g.2126065_2126066del (hg19) ; chr16:g.2076064_2076065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076064_2076065del , CM000678.2:g.2076064_2076065del	GRCh38
NC_000016.9:g.2126065_2126066del , CM000678.1:g.2126065_2126066del	GRCh37
NC_000016.8:g.2066066_2066067del	NCBI36
NG_005895.1:g.31759_31760del , LRG_487:g.31759_31760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1187-4_*1187-3del	ENSP00000455997.2:n.*1187-4_*1187-3del
ENST00000642206.2:c.2685-4_2685-3del	ENSP00000495146.2:n.2685-4_2685-3del
ENST00000642365.2:c.2640-4_2640-3del	ENSP00000495459.2:n.2640-4_2640-3del
ENST00000644417.2:c.*2077-4_*2077-3del	ENSP00000493912.2:n.*2077-4_*2077-3del
ENST00000646464.2:c.*3694-4_*3694-3del	ENSP00000496610.2:n.*3694-4_*3694-3del
ENST00000219476.9:c.2640-4_2640-3del MANE Select	ENSP00000219476.3:n.2640-4_2640-3del
ENST00000350773.9:c.2640-4_2640-3del	ENSP00000344383.4:n.2640-4_2640-3del
ENST00000401874.7:c.2640-4_2640-3del	ENSP00000384468.2:n.2640-4_2640-3del
ENST00000568454.6:c.2673-4_2673-3del	ENSP00000454487.1:n.2673-4_2673-3del
ENST00000642365.1:c.1297-4_1297-3del
ENST00000642561.1:c.2640-4_2640-3del	ENSP00000495099.1:n.2640-4_2640-3del
ENST00000642797.1:c.2640-4_2640-3del	ENSP00000493846.1:n.2640-4_2640-3del
ENST00000642936.1:c.2640-4_2640-3del	ENSP00000494514.1:n.2640-4_2640-3del
ENST00000643088.1:c.2640-4_2640-3del	ENSP00000494747.1:n.2640-4_2640-3del
ENST00000643298.1:c.*2142-4_*2142-3del	ENSP00000494393.1:n.*2142-4_*2142-3del
ENST00000643946.1:c.2640-4_2640-3del	ENSP00000495927.1:n.2640-4_2640-3del
ENST00000644043.1:c.2640-4_2640-3del	ENSP00000496262.1:n.2640-4_2640-3del
ENST00000644329.1:c.2640-4_2640-3del	ENSP00000496611.1:n.2640-4_2640-3del
ENST00000644335.1:c.2640-4_2640-3del	ENSP00000496317.1:n.2640-4_2640-3del
ENST00000644399.1:c.2633-4_2633-3del
ENST00000645024.1:n.922-4_922-3del
ENST00000646388.1:c.2640-4_2640-3del	ENSP00000495921.1:n.2640-4_2640-3del
ENST00000646634.1:n.1653-4_1653-3del
ENST00000219476.7:c.2640-4_2640-3del	ENSP00000219476.3:n.2640-4_2640-3del
ENST00000350773.8:c.2640-4_2640-3del	ENSP00000344383.4:n.2640-4_2640-3del
ENST00000382538.10:c.2493-4_2493-3del	ENSP00000371978.6:n.2493-4_2493-3del
ENST00000401874.6:c.2640-4_2640-3del	ENSP00000384468.2:n.2640-4_2640-3del
ENST00000439117.6:c.*1939-4_*1939-3del	ENSP00000406980.2:n.*1939-4_*1939-3del
ENST00000439673.6:c.2529-4_2529-3del	ENSP00000399232.2:n.2529-4_2529-3del
ENST00000568454.5:c.2673-4_2673-3del	ENSP00000454487.1:n.2673-4_2673-3del
NM_000548.3:c.2640-4_2640-3del , LRG_487t1:c.2640-4_2640-3del	NP_000539.2:n.2640-4_2640-3del
NM_001077183.1:c.2640-4_2640-3del	NP_001070651.1:n.2640-4_2640-3del
NM_001114382.1:c.2640-4_2640-3del	NP_001107854.1:n.2640-4_2640-3del
XM_005255529.3:c.2640-4_2640-3del	XP_005255586.2:n.2640-4_2640-3del
XM_005255531.3:c.2640-4_2640-3del	XP_005255588.2:n.2640-4_2640-3del
XM_011522636.1:c.2640-4_2640-3del	XP_011520938.1:n.2640-4_2640-3del
XM_011522637.1:c.2640-4_2640-3del	XP_011520939.1:n.2640-4_2640-3del
XM_011522638.1:c.2529-4_2529-3del	XP_011520940.1:n.2529-4_2529-3del
XM_011522639.1:c.2640-4_2640-3del	XP_011520941.1:n.2640-4_2640-3del
XM_011522640.1:c.2640-4_2640-3del	XP_011520942.1:n.2640-4_2640-3del
XM_011522641.1:c.2529-4_2529-3del	XP_011520943.1:n.2529-4_2529-3del
NM_000548.4:c.2640-4_2640-3del	NP_000539.2:n.2640-4_2640-3del
NM_001077183.2:c.2640-4_2640-3del	NP_001070651.1:n.2640-4_2640-3del
NM_001114382.2:c.2640-4_2640-3del	NP_001107854.1:n.2640-4_2640-3del
NM_001318827.1:c.2529-4_2529-3del	NP_001305756.1:n.2529-4_2529-3del
NM_001318829.1:c.2493-4_2493-3del	NP_001305758.1:n.2493-4_2493-3del
NM_001318831.1:c.2040-4_2040-3del	NP_001305760.1:n.2040-4_2040-3del
NM_001318832.1:c.2673-4_2673-3del	NP_001305761.1:n.2673-4_2673-3del
NM_001363528.1:c.2640-4_2640-3del	NP_001350457.1:n.2640-4_2640-3del
NM_021055.2:c.2640-4_2640-3del	NP_066399.2:n.2640-4_2640-3del
XM_005255531.4:c.2640-4_2640-3del	XP_005255588.2:n.2640-4_2640-3del
XM_011522636.2:c.2640-4_2640-3del	XP_011520938.1:n.2640-4_2640-3del
XM_011522637.2:c.2640-4_2640-3del	XP_011520939.1:n.2640-4_2640-3del
XM_011522638.2:c.2802-4_2802-3del	XP_011520940.2:n.2802-4_2802-3del
XM_011522639.2:c.2640-4_2640-3del	XP_011520941.1:n.2640-4_2640-3del
XM_011522640.2:c.2640-4_2640-3del	XP_011520942.1:n.2640-4_2640-3del
XM_017023615.1:c.2640-4_2640-3del	XP_016879104.1:n.2640-4_2640-3del
XM_017023616.1:c.2640-4_2640-3del	XP_016879105.1:n.2640-4_2640-3del
XM_017023617.1:c.2802-4_2802-3del	XP_016879106.1:n.2802-4_2802-3del
XM_017023618.1:c.1296-4_1296-3del	XP_016879107.1:n.1296-4_1296-3del
XM_024450413.1:c.2640-4_2640-3del	XP_024306181.1:n.2640-4_2640-3del
NM_000548.5:c.2640-4_2640-3del MANE Select	NP_000539.2:n.2640-4_2640-3del
NM_001370404.1:c.2640-4_2640-3del	NP_001357333.1:n.2640-4_2640-3del
NM_001370405.1:c.2640-4_2640-3del	NP_001357334.1:n.2640-4_2640-3del
NM_001077183.3:c.2640-4_2640-3del	NP_001070651.1:n.2640-4_2640-3del
NM_001114382.3:c.2640-4_2640-3del	NP_001107854.1:n.2640-4_2640-3del
NM_001318827.2:c.2529-4_2529-3del	NP_001305756.1:n.2529-4_2529-3del
NM_001318829.2:c.2493-4_2493-3del	NP_001305758.1:n.2493-4_2493-3del
NM_001318831.2:c.2040-4_2040-3del	NP_001305760.1:n.2040-4_2040-3del
NM_001318832.2:c.2673-4_2673-3del	NP_001305761.1:n.2673-4_2673-3del
NM_001363528.2:c.2640-4_2640-3del	NP_001350457.1:n.2640-4_2640-3del
NM_021055.3:c.2640-4_2640-3del	NP_066399.2:n.2640-4_2640-3del