Canonical Allele Identifier: CA493043434

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2125887
• ClinVar RCV Id: RCV003043845
• dbSNP Id: rs1240764768
• gnomAD v2: 16-2134537-G-A
• MyVariant Identifiers: chr16:g.2134537G>A (hg19) ; chr16:g.2084536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084536G>A , CM000678.2:g.2084536G>A	GRCh38
NC_000016.9:g.2134537G>A , CM000678.1:g.2134537G>A	GRCh37
NC_000016.8:g.2074538G>A	NCBI36
NG_005895.1:g.40231G>A , LRG_487:g.40231G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2663G>A	ENSP00000455997.2:n.*2663G>A
ENST00000642206.2:c.4161G>A	ENSP00000495146.2:p.Arg1387=
ENST00000642365.2:c.4311G>A	ENSP00000495459.2:p.Arg1437=
ENST00000644417.2:c.*4694G>A	ENSP00000493912.2:n.*4694G>A
ENST00000646464.2:c.*7063G>A	ENSP00000496610.2:n.*7063G>A
ENST00000219476.9:c.4314G>A MANE Select	ENSP00000219476.3:p.Arg1438=
ENST00000350773.9:c.4245G>A	ENSP00000344383.4:p.Arg1415=
ENST00000401874.7:c.4113G>A	ENSP00000384468.2:p.Arg1371=
ENST00000568454.6:c.4146G>A	ENSP00000454487.1:p.Arg1382=
ENST00000569110.2:c.550G>A
ENST00000569930.2:n.2196G>A
ENST00000642365.1:c.2968G>A
ENST00000642561.1:c.4185G>A	ENSP00000495099.1:p.Arg1395=
ENST00000642728.1:n.496G>A
ENST00000642797.1:c.4116G>A	ENSP00000493846.1:p.Arg1372=
ENST00000642936.1:c.4182G>A	ENSP00000494514.1:p.Arg1394=
ENST00000643088.1:c.4113G>A	ENSP00000494747.1:p.Arg1371=
ENST00000643177.1:n.328G>A
ENST00000643426.1:n.1962G>A
ENST00000643946.1:c.4245G>A	ENSP00000495927.1:p.Arg1415=
ENST00000644043.1:c.4185G>A	ENSP00000496262.1:p.Arg1395=
ENST00000644329.1:c.4113G>A	ENSP00000496611.1:p.Arg1371=
ENST00000644335.1:c.4116G>A	ENSP00000496317.1:p.Arg1372=
ENST00000644399.1:c.4235G>A
ENST00000645024.1:n.2398G>A
ENST00000646388.1:c.4314G>A	ENSP00000495921.1:p.Arg1438=
ENST00000646634.1:n.3129G>A
ENST00000646674.1:n.1566G>A
ENST00000647042.1:n.1537G>A
ENST00000647180.1:n.1427G>A
ENST00000219476.7:c.4314G>A	ENSP00000219476.3:p.Arg1438=
ENST00000350773.8:c.4245G>A	ENSP00000344383.4:p.Arg1415=
ENST00000382538.10:c.3969G>A	ENSP00000371978.6:p.Arg1323=
ENST00000401874.6:c.4113G>A	ENSP00000384468.2:p.Arg1371=
ENST00000439117.6:c.*3481G>A	ENSP00000406980.2:n.*3481G>A
ENST00000439673.6:c.4005G>A	ENSP00000399232.2:p.Arg1335=
ENST00000497886.5:n.2072G>A
ENST00000568454.5:c.4146G>A	ENSP00000454487.1:p.Arg1382=
ENST00000569110.1:c.496G>A
ENST00000569930.1:n.1429G>A
NM_000548.3:c.4314G>A , LRG_487t1:c.4314G>A	NP_000539.2:p.Arg1438=
NM_001077183.1:c.4113G>A	NP_001070651.1:p.Arg1371=
NM_001114382.1:c.4245G>A	NP_001107854.1:p.Arg1415=
XM_005255529.3:c.4185G>A	XP_005255586.2:p.Arg1395=
XM_005255531.3:c.4116G>A	XP_005255588.2:p.Arg1372=
XM_011522636.1:c.4368G>A	XP_011520938.1:p.Arg1456=
XM_011522637.1:c.4365G>A	XP_011520939.1:p.Arg1455=
XM_011522638.1:c.4257G>A	XP_011520940.1:p.Arg1419=
XM_011522639.1:c.4239G>A	XP_011520941.1:p.Arg1413=
XM_011522640.1:c.4236G>A	XP_011520942.1:p.Arg1412=
XM_011522641.1:c.4005G>A	XP_011520943.1:p.Arg1335=
NM_000548.4:c.4314G>A	NP_000539.2:p.Arg1438=
NM_001077183.2:c.4113G>A	NP_001070651.1:p.Arg1371=
NM_001114382.2:c.4245G>A	NP_001107854.1:p.Arg1415=
NM_001318827.1:c.4005G>A	NP_001305756.1:p.Arg1335=
NM_001318829.1:c.3969G>A	NP_001305758.1:p.Arg1323=
NM_001318831.1:c.3582G>A	NP_001305760.1:p.Arg1194=
NM_001318832.1:c.4146G>A	NP_001305761.1:p.Arg1382=
NM_001363528.1:c.4116G>A	NP_001350457.1:p.Arg1372=
NM_021055.2:c.4185G>A	NP_066399.2:p.Arg1395=
XM_005255531.4:c.4116G>A	XP_005255588.2:p.Arg1372=
XM_011522636.2:c.4368G>A	XP_011520938.1:p.Arg1456=
XM_011522637.2:c.4365G>A	XP_011520939.1:p.Arg1455=
XM_011522638.2:c.4530G>A	XP_011520940.2:p.Arg1510=
XM_011522639.2:c.4239G>A	XP_011520941.1:p.Arg1413=
XM_011522640.2:c.4236G>A	XP_011520942.1:p.Arg1412=
XM_017023615.1:c.4311G>A	XP_016879104.1:p.Arg1437=
XM_017023616.1:c.4182G>A	XP_016879105.1:p.Arg1394=
XM_017023617.1:c.4278G>A	XP_016879106.1:p.Arg1426=
XM_017023618.1:c.3024G>A	XP_016879107.1:p.Arg1008=
XM_024450413.1:c.4113G>A	XP_024306181.1:p.Arg1371=
NM_000548.5:c.4314G>A MANE Select	NP_000539.2:p.Arg1438=
NM_001370404.1:c.4182G>A	NP_001357333.1:p.Arg1394=
NM_001370405.1:c.4185G>A	NP_001357334.1:p.Arg1395=
NM_001077183.3:c.4113G>A	NP_001070651.1:p.Arg1371=
NM_001114382.3:c.4245G>A	NP_001107854.1:p.Arg1415=
NM_001318827.2:c.4005G>A	NP_001305756.1:p.Arg1335=
NM_001318829.2:c.3969G>A	NP_001305758.1:p.Arg1323=
NM_001318831.2:c.3582G>A	NP_001305760.1:p.Arg1194=
NM_001318832.2:c.4146G>A	NP_001305761.1:p.Arg1382=
NM_001363528.2:c.4116G>A	NP_001350457.1:p.Arg1372=
NM_021055.3:c.4185G>A	NP_066399.2:p.Arg1395=