Canonical Allele Identifier: CA020415

Gene: TSC2

Linked Data

• ClinVar Variation Id: 196884
• ClinVar RCV Id: RCV000177762
• dbSNP Id: rs794727573
• gnomAD v4: 16-2084633-AG-A
• MyVariant Identifiers: chr16:g.2134638del (hg19) ; chr16:g.2134638delG (hg19) ; chr16:g.2084637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084637del , CM000678.2:g.2084637del	GRCh38
NC_000016.9:g.2134638del , CM000678.1:g.2134638del	GRCh37
NC_000016.8:g.2074639del	NCBI36
NG_005895.1:g.40332del , LRG_487:g.40332del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2764del	ENSP00000455997.2:n.*2764del
ENST00000642206.2:c.4262del	ENSP00000495146.2:p.Gly1421AlafsTer4
ENST00000642365.2:c.4412del	ENSP00000495459.2:p.Gly1471AlafsTer4
ENST00000644417.2:c.*4795del	ENSP00000493912.2:n.*4795del
ENST00000646464.2:c.*7164del	ENSP00000496610.2:n.*7164del
ENST00000219476.9:c.4415del MANE Select	ENSP00000219476.3:p.Gly1472AlafsTer4
ENST00000350773.9:c.4346del	ENSP00000344383.4:p.Gly1449AlafsTer4
ENST00000401874.7:c.4214del	ENSP00000384468.2:p.Gly1405AlafsTer4
ENST00000568454.6:c.4247del	ENSP00000454487.1:p.Gly1416AlafsTer4
ENST00000569110.2:c.651del
ENST00000569930.2:n.2297del
ENST00000642365.1:c.3069del
ENST00000642561.1:c.4286del	ENSP00000495099.1:p.Gly1429AlafsTer4
ENST00000642728.1:n.597del
ENST00000642797.1:c.4217del	ENSP00000493846.1:p.Gly1406AlafsTer4
ENST00000642936.1:c.4283del	ENSP00000494514.1:p.Gly1428AlafsTer4
ENST00000643088.1:c.4214del	ENSP00000494747.1:p.Gly1405AlafsTer4
ENST00000643177.1:n.429del
ENST00000643426.1:n.2063del
ENST00000643946.1:c.4346del	ENSP00000495927.1:p.Gly1449AlafsTer4
ENST00000644043.1:c.4286del	ENSP00000496262.1:p.Gly1429AlafsTer4
ENST00000644329.1:c.4214del	ENSP00000496611.1:p.Gly1405AlafsTer4
ENST00000644335.1:c.4217del	ENSP00000496317.1:p.Gly1406AlafsTer4
ENST00000644399.1:c.4336del
ENST00000645024.1:n.2499del
ENST00000646388.1:c.4415del	ENSP00000495921.1:p.Gly1472AlafsTer4
ENST00000646634.1:n.3230del
ENST00000646674.1:n.1667del
ENST00000647042.1:n.1638del
ENST00000647180.1:n.1528del
ENST00000219476.7:c.4415del	ENSP00000219476.3:p.Gly1472AlafsTer4
ENST00000350773.8:c.4346del	ENSP00000344383.4:p.Gly1449AlafsTer4
ENST00000382538.10:c.4070del	ENSP00000371978.6:p.Gly1357AlafsTer4
ENST00000401874.6:c.4214del	ENSP00000384468.2:p.Gly1405AlafsTer4
ENST00000439117.6:c.*3582del	ENSP00000406980.2:n.*3582del
ENST00000439673.6:c.4106del	ENSP00000399232.2:p.Gly1369AlafsTer4
ENST00000497886.5:n.2173del
ENST00000568454.5:c.4247del	ENSP00000454487.1:p.Gly1416AlafsTer4
ENST00000569110.1:c.597del
ENST00000569930.1:n.1530del
NM_000548.3:c.4415del , LRG_487t1:c.4415del	NP_000539.2:p.Gly1472AlafsTer4
NM_001077183.1:c.4214del	NP_001070651.1:p.Gly1405AlafsTer4
NM_001114382.1:c.4346del	NP_001107854.1:p.Gly1449AlafsTer4
XM_005255529.3:c.4286del	XP_005255586.2:p.Gly1429AlafsTer4
XM_005255531.3:c.4217del	XP_005255588.2:p.Gly1406AlafsTer4
XM_011522636.1:c.4469del	XP_011520938.1:p.Gly1490AlafsTer4
XM_011522637.1:c.4466del	XP_011520939.1:p.Gly1489AlafsTer4
XM_011522638.1:c.4358del	XP_011520940.1:p.Gly1453AlafsTer4
XM_011522639.1:c.4340del	XP_011520941.1:p.Gly1447AlafsTer4
XM_011522640.1:c.4337del	XP_011520942.1:p.Gly1446AlafsTer4
XM_011522641.1:c.4106del	XP_011520943.1:p.Gly1369AlafsTer4
NM_000548.4:c.4415del	NP_000539.2:p.Gly1472AlafsTer4
NM_001077183.2:c.4214del	NP_001070651.1:p.Gly1405AlafsTer4
NM_001114382.2:c.4346del	NP_001107854.1:p.Gly1449AlafsTer4
NM_001318827.1:c.4106del	NP_001305756.1:p.Gly1369AlafsTer4
NM_001318829.1:c.4070del	NP_001305758.1:p.Gly1357AlafsTer4
NM_001318831.1:c.3683del	NP_001305760.1:p.Gly1228AlafsTer4
NM_001318832.1:c.4247del	NP_001305761.1:p.Gly1416AlafsTer4
NM_001363528.1:c.4217del	NP_001350457.1:p.Gly1406AlafsTer4
NM_021055.2:c.4286del	NP_066399.2:p.Gly1429AlafsTer4
XM_005255531.4:c.4217del	XP_005255588.2:p.Gly1406AlafsTer4
XM_011522636.2:c.4469del	XP_011520938.1:p.Gly1490AlafsTer4
XM_011522637.2:c.4466del	XP_011520939.1:p.Gly1489AlafsTer4
XM_011522638.2:c.4631del	XP_011520940.2:p.Gly1544AlafsTer4
XM_011522639.2:c.4340del	XP_011520941.1:p.Gly1447AlafsTer4
XM_011522640.2:c.4337del	XP_011520942.1:p.Gly1446AlafsTer4
XM_017023615.1:c.4412del	XP_016879104.1:p.Gly1471AlafsTer4
XM_017023616.1:c.4283del	XP_016879105.1:p.Gly1428AlafsTer4
XM_017023617.1:c.4379del	XP_016879106.1:p.Gly1460AlafsTer4
XM_017023618.1:c.3125del	XP_016879107.1:p.Gly1042AlafsTer4
XM_024450413.1:c.4214del	XP_024306181.1:p.Gly1405AlafsTer4
NM_000548.5:c.4415del MANE Select	NP_000539.2:p.Gly1472AlafsTer4
NM_001370404.1:c.4283del	NP_001357333.1:p.Gly1428AlafsTer4
NM_001370405.1:c.4286del	NP_001357334.1:p.Gly1429AlafsTer4
NM_001077183.3:c.4214del	NP_001070651.1:p.Gly1405AlafsTer4
NM_001114382.3:c.4346del	NP_001107854.1:p.Gly1449AlafsTer4
NM_001318827.2:c.4106del	NP_001305756.1:p.Gly1369AlafsTer4
NM_001318829.2:c.4070del	NP_001305758.1:p.Gly1357AlafsTer4
NM_001318831.2:c.3683del	NP_001305760.1:p.Gly1228AlafsTer4
NM_001318832.2:c.4247del	NP_001305761.1:p.Gly1416AlafsTer4
NM_001363528.2:c.4217del	NP_001350457.1:p.Gly1406AlafsTer4
NM_021055.3:c.4286del	NP_066399.2:p.Gly1429AlafsTer4