Canonical Allele Identifier: CA620705093

Gene: TSC2

Linked Data

• dbSNP Id: rs1337072487
• gnomAD v2: 16-2138412-CCCAGACTT-C
• gnomAD v4: 16-2088411-CCCAGACTT-C
• MyVariant Identifiers: chr16:g.2138413_2138420del (hg19) ; chr16:g.2088412_2088419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088412_2088419del , CM000678.2:g.2088412_2088419del	GRCh38
NC_000016.9:g.2138413_2138420del , CM000678.1:g.2138413_2138420del	GRCh37
NC_000016.8:g.2078414_2078421del	NCBI36
NG_005895.1:g.44107_44114del , LRG_487:g.44107_44114del
NG_008617.1:g.54802_54809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3609-34_*3609-27del	ENSP00000455997.2:n.*3609-34_*3609-27del
ENST00000642206.2:c.5107-34_5107-27del	ENSP00000495146.2:n.5107-34_5107-27del
ENST00000642365.2:c.5257-34_5257-27del	ENSP00000495459.2:n.5257-34_5257-27del
ENST00000644417.2:c.*5773-34_*5773-27del	ENSP00000493912.2:n.*5773-34_*5773-27del
ENST00000646464.2:c.*8009-34_*8009-27del	ENSP00000496610.2:n.*8009-34_*8009-27del
ENST00000219476.9:c.5260-34_5260-27del MANE Select	ENSP00000219476.3:n.5260-34_5260-27del
ENST00000350773.9:c.5191-34_5191-27del	ENSP00000344383.4:n.5191-34_5191-27del
ENST00000401874.7:c.5059-34_5059-27del	ENSP00000384468.2:n.5059-34_5059-27del
ENST00000568454.6:c.5092-34_5092-27del	ENSP00000454487.1:n.5092-34_5092-27del
ENST00000569110.2:c.1483-34_1483-27del
ENST00000569930.2:n.3142-34_3142-27del
ENST00000642365.1:c.3914-34_3914-27del
ENST00000642561.1:c.5119-34_5119-27del	ENSP00000495099.1:n.5119-34_5119-27del
ENST00000642791.1:n.857-34_857-27del
ENST00000642797.1:c.5062-34_5062-27del	ENSP00000493846.1:n.5062-34_5062-27del
ENST00000642936.1:c.5128-34_5128-27del	ENSP00000494514.1:n.5128-34_5128-27del
ENST00000643088.1:c.5053-34_5053-27del	ENSP00000494747.1:n.5053-34_5053-27del
ENST00000643426.1:n.2908-34_2908-27del
ENST00000643946.1:c.5185-34_5185-27del	ENSP00000495927.1:n.5185-34_5185-27del
ENST00000644043.1:c.5131-34_5131-27del	ENSP00000496262.1:n.5131-34_5131-27del
ENST00000644329.1:c.5146-34_5146-27del	ENSP00000496611.1:n.5146-34_5146-27del
ENST00000644335.1:c.5056-34_5056-27del	ENSP00000496317.1:n.5056-34_5056-27del
ENST00000644399.1:c.5181-34_5181-27del
ENST00000645024.1:n.3344-34_3344-27del
ENST00000646388.1:c.5254-34_5254-27del	ENSP00000495921.1:n.5254-34_5254-27del
ENST00000646634.1:n.4075-34_4075-27del
ENST00000646674.1:n.2512-34_2512-27del
ENST00000647042.1:n.2483-34_2483-27del
ENST00000647180.1:n.2373-34_2373-27del
ENST00000219476.7:c.5260-34_5260-27del	ENSP00000219476.3:n.5260-34_5260-27del
ENST00000350773.8:c.5191-34_5191-27del	ENSP00000344383.4:n.5191-34_5191-27del
ENST00000382538.10:c.4915-34_4915-27del	ENSP00000371978.6:n.4915-34_4915-27del
ENST00000401874.6:c.5059-34_5059-27del	ENSP00000384468.2:n.5059-34_5059-27del
ENST00000439117.6:c.*4427-34_*4427-27del	ENSP00000406980.2:n.*4427-34_*4427-27del
ENST00000439673.6:c.4951-34_4951-27del	ENSP00000399232.2:n.4951-34_4951-27del
ENST00000497886.5:n.2983-34_2983-27del
ENST00000568454.5:c.5092-34_5092-27del	ENSP00000454487.1:n.5092-34_5092-27del
ENST00000569110.1:c.1442-34_1442-27del
ENST00000569930.1:n.2375-34_2375-27del
NM_000548.3:c.5260-34_5260-27del , LRG_487t1:c.5260-34_5260-27del	NP_000539.2:n.5260-34_5260-27del
NM_001077183.1:c.5059-34_5059-27del	NP_001070651.1:n.5059-34_5059-27del
NM_001114382.1:c.5191-34_5191-27del	NP_001107854.1:n.5191-34_5191-27del
XM_005255529.3:c.5131-34_5131-27del	XP_005255586.2:n.5131-34_5131-27del
XM_005255531.3:c.5062-34_5062-27del	XP_005255588.2:n.5062-34_5062-27del
XM_011522636.1:c.5314-34_5314-27del	XP_011520938.1:n.5314-34_5314-27del
XM_011522637.1:c.5311-34_5311-27del	XP_011520939.1:n.5311-34_5311-27del
XM_011522638.1:c.5203-34_5203-27del	XP_011520940.1:n.5203-34_5203-27del
XM_011522639.1:c.5185-34_5185-27del	XP_011520941.1:n.5185-34_5185-27del
XM_011522640.1:c.5182-34_5182-27del	XP_011520942.1:n.5182-34_5182-27del
XM_011522641.1:c.4951-34_4951-27del	XP_011520943.1:n.4951-34_4951-27del
NM_000548.4:c.5260-34_5260-27del	NP_000539.2:n.5260-34_5260-27del
NM_001077183.2:c.5059-34_5059-27del	NP_001070651.1:n.5059-34_5059-27del
NM_001114382.2:c.5191-34_5191-27del	NP_001107854.1:n.5191-34_5191-27del
NM_001318827.1:c.4951-34_4951-27del	NP_001305756.1:n.4951-34_4951-27del
NM_001318829.1:c.4915-34_4915-27del	NP_001305758.1:n.4915-34_4915-27del
NM_001318831.1:c.4528-34_4528-27del	NP_001305760.1:n.4528-34_4528-27del
NM_001318832.1:c.5092-34_5092-27del	NP_001305761.1:n.5092-34_5092-27del
NM_001363528.1:c.5062-34_5062-27del	NP_001350457.1:n.5062-34_5062-27del
NM_021055.2:c.5131-34_5131-27del	NP_066399.2:n.5131-34_5131-27del
XM_005255531.4:c.5062-34_5062-27del	XP_005255588.2:n.5062-34_5062-27del
XM_011522636.2:c.5314-34_5314-27del	XP_011520938.1:n.5314-34_5314-27del
XM_011522637.2:c.5311-34_5311-27del	XP_011520939.1:n.5311-34_5311-27del
XM_011522638.2:c.5476-34_5476-27del	XP_011520940.2:n.5476-34_5476-27del
XM_011522639.2:c.5185-34_5185-27del	XP_011520941.1:n.5185-34_5185-27del
XM_011522640.2:c.5182-34_5182-27del	XP_011520942.1:n.5182-34_5182-27del
XM_017023615.1:c.5257-34_5257-27del	XP_016879104.1:n.5257-34_5257-27del
XM_017023616.1:c.5128-34_5128-27del	XP_016879105.1:n.5128-34_5128-27del
XM_017023617.1:c.5224-34_5224-27del	XP_016879106.1:n.5224-34_5224-27del
XM_017023618.1:c.3970-34_3970-27del	XP_016879107.1:n.3970-34_3970-27del
XM_024450413.1:c.5146-34_5146-27del	XP_024306181.1:n.5146-34_5146-27del
NM_000548.5:c.5260-34_5260-27del MANE Select	NP_000539.2:n.5260-34_5260-27del
NM_001370404.1:c.5128-34_5128-27del	NP_001357333.1:n.5128-34_5128-27del
NM_001370405.1:c.5119-34_5119-27del	NP_001357334.1:n.5119-34_5119-27del
NM_001077183.3:c.5059-34_5059-27del	NP_001070651.1:n.5059-34_5059-27del
NM_001114382.3:c.5191-34_5191-27del	NP_001107854.1:n.5191-34_5191-27del
NM_001318827.2:c.4951-34_4951-27del	NP_001305756.1:n.4951-34_4951-27del
NM_001318829.2:c.4915-34_4915-27del	NP_001305758.1:n.4915-34_4915-27del
NM_001318831.2:c.4528-34_4528-27del	NP_001305760.1:n.4528-34_4528-27del
NM_001318832.2:c.5092-34_5092-27del	NP_001305761.1:n.5092-34_5092-27del
NM_001363528.2:c.5062-34_5062-27del	NP_001350457.1:n.5062-34_5062-27del
NM_021055.3:c.5131-34_5131-27del	NP_066399.2:n.5131-34_5131-27del