Canonical Allele Identifier: CA050858

Gene: TSC2

Linked Data

• ClinVar Variation Id: 413743
• ClinVar RCV Id: RCV000471715 ; RCV000609013 ; RCV002258922 ; RCV003392294 ; RCV004002103
• dbSNP Id: rs536527623
• ExAC: 16:2134546 C / T
• gnomAD v2: 16-2134546-C-T
• gnomAD v3: 16-2084545-C-T
• gnomAD v4: 16-2084545-C-T
• MyVariant Identifiers: chr16:g.2134546C>T (hg19) ; chr16:g.2084545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084545C>T , CM000678.2:g.2084545C>T	GRCh38
NC_000016.9:g.2134546C>T , CM000678.1:g.2134546C>T	GRCh37
NC_000016.8:g.2074547C>T	NCBI36
NG_005895.1:g.40240C>T , LRG_487:g.40240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2672C>T	ENSP00000455997.2:n.*2672C>T
ENST00000642206.2:c.4170C>T	ENSP00000495146.2:p.Pro1390=
ENST00000642365.2:c.4320C>T	ENSP00000495459.2:p.Pro1440=
ENST00000644417.2:c.*4703C>T	ENSP00000493912.2:n.*4703C>T
ENST00000646464.2:c.*7072C>T	ENSP00000496610.2:n.*7072C>T
ENST00000219476.9:c.4323C>T MANE Select	ENSP00000219476.3:p.Pro1441=
ENST00000350773.9:c.4254C>T	ENSP00000344383.4:p.Pro1418=
ENST00000401874.7:c.4122C>T	ENSP00000384468.2:p.Pro1374=
ENST00000568454.6:c.4155C>T	ENSP00000454487.1:p.Pro1385=
ENST00000569110.2:c.559C>T
ENST00000569930.2:n.2205C>T
ENST00000642365.1:c.2977C>T
ENST00000642561.1:c.4194C>T	ENSP00000495099.1:p.Pro1398=
ENST00000642728.1:n.505C>T
ENST00000642797.1:c.4125C>T	ENSP00000493846.1:p.Pro1375=
ENST00000642936.1:c.4191C>T	ENSP00000494514.1:p.Pro1397=
ENST00000643088.1:c.4122C>T	ENSP00000494747.1:p.Pro1374=
ENST00000643177.1:n.337C>T
ENST00000643426.1:n.1971C>T
ENST00000643946.1:c.4254C>T	ENSP00000495927.1:p.Pro1418=
ENST00000644043.1:c.4194C>T	ENSP00000496262.1:p.Pro1398=
ENST00000644329.1:c.4122C>T	ENSP00000496611.1:p.Pro1374=
ENST00000644335.1:c.4125C>T	ENSP00000496317.1:p.Pro1375=
ENST00000644399.1:c.4244C>T
ENST00000645024.1:n.2407C>T
ENST00000646388.1:c.4323C>T	ENSP00000495921.1:p.Pro1441=
ENST00000646634.1:n.3138C>T
ENST00000646674.1:n.1575C>T
ENST00000647042.1:n.1546C>T
ENST00000647180.1:n.1436C>T
ENST00000219476.7:c.4323C>T	ENSP00000219476.3:p.Pro1441=
ENST00000350773.8:c.4254C>T	ENSP00000344383.4:p.Pro1418=
ENST00000382538.10:c.3978C>T	ENSP00000371978.6:p.Pro1326=
ENST00000401874.6:c.4122C>T	ENSP00000384468.2:p.Pro1374=
ENST00000439117.6:c.*3490C>T	ENSP00000406980.2:n.*3490C>T
ENST00000439673.6:c.4014C>T	ENSP00000399232.2:p.Pro1338=
ENST00000497886.5:n.2081C>T
ENST00000568454.5:c.4155C>T	ENSP00000454487.1:p.Pro1385=
ENST00000569110.1:c.505C>T
ENST00000569930.1:n.1438C>T
NM_000548.3:c.4323C>T , LRG_487t1:c.4323C>T	NP_000539.2:p.Pro1441=
NM_001077183.1:c.4122C>T	NP_001070651.1:p.Pro1374=
NM_001114382.1:c.4254C>T	NP_001107854.1:p.Pro1418=
XM_005255529.3:c.4194C>T	XP_005255586.2:p.Pro1398=
XM_005255531.3:c.4125C>T	XP_005255588.2:p.Pro1375=
XM_011522636.1:c.4377C>T	XP_011520938.1:p.Pro1459=
XM_011522637.1:c.4374C>T	XP_011520939.1:p.Pro1458=
XM_011522638.1:c.4266C>T	XP_011520940.1:p.Pro1422=
XM_011522639.1:c.4248C>T	XP_011520941.1:p.Pro1416=
XM_011522640.1:c.4245C>T	XP_011520942.1:p.Pro1415=
XM_011522641.1:c.4014C>T	XP_011520943.1:p.Pro1338=
NM_000548.4:c.4323C>T	NP_000539.2:p.Pro1441=
NM_001077183.2:c.4122C>T	NP_001070651.1:p.Pro1374=
NM_001114382.2:c.4254C>T	NP_001107854.1:p.Pro1418=
NM_001318827.1:c.4014C>T	NP_001305756.1:p.Pro1338=
NM_001318829.1:c.3978C>T	NP_001305758.1:p.Pro1326=
NM_001318831.1:c.3591C>T	NP_001305760.1:p.Pro1197=
NM_001318832.1:c.4155C>T	NP_001305761.1:p.Pro1385=
NM_001363528.1:c.4125C>T	NP_001350457.1:p.Pro1375=
NM_021055.2:c.4194C>T	NP_066399.2:p.Pro1398=
XM_005255531.4:c.4125C>T	XP_005255588.2:p.Pro1375=
XM_011522636.2:c.4377C>T	XP_011520938.1:p.Pro1459=
XM_011522637.2:c.4374C>T	XP_011520939.1:p.Pro1458=
XM_011522638.2:c.4539C>T	XP_011520940.2:p.Pro1513=
XM_011522639.2:c.4248C>T	XP_011520941.1:p.Pro1416=
XM_011522640.2:c.4245C>T	XP_011520942.1:p.Pro1415=
XM_017023615.1:c.4320C>T	XP_016879104.1:p.Pro1440=
XM_017023616.1:c.4191C>T	XP_016879105.1:p.Pro1397=
XM_017023617.1:c.4287C>T	XP_016879106.1:p.Pro1429=
XM_017023618.1:c.3033C>T	XP_016879107.1:p.Pro1011=
XM_024450413.1:c.4122C>T	XP_024306181.1:p.Pro1374=
NM_000548.5:c.4323C>T MANE Select	NP_000539.2:p.Pro1441=
NM_001370404.1:c.4191C>T	NP_001357333.1:p.Pro1397=
NM_001370405.1:c.4194C>T	NP_001357334.1:p.Pro1398=
NM_001077183.3:c.4122C>T	NP_001070651.1:p.Pro1374=
NM_001114382.3:c.4254C>T	NP_001107854.1:p.Pro1418=
NM_001318827.2:c.4014C>T	NP_001305756.1:p.Pro1338=
NM_001318829.2:c.3978C>T	NP_001305758.1:p.Pro1326=
NM_001318831.2:c.3591C>T	NP_001305760.1:p.Pro1197=
NM_001318832.2:c.4155C>T	NP_001305761.1:p.Pro1385=
NM_001363528.2:c.4125C>T	NP_001350457.1:p.Pro1375=
NM_021055.3:c.4194C>T	NP_066399.2:p.Pro1398=