Canonical Allele Identifier: CA493043491

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468086
• ClinVar RCV Id: RCV000526904 ; RCV002257814
• dbSNP Id: rs1555514397
• gnomAD v4: 16-2084590-C-T
• MyVariant Identifiers: chr16:g.2134591C>T (hg19) ; chr16:g.2084590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084590C>T , CM000678.2:g.2084590C>T	GRCh38
NC_000016.9:g.2134591C>T , CM000678.1:g.2134591C>T	GRCh37
NC_000016.8:g.2074592C>T	NCBI36
NG_005895.1:g.40285C>T , LRG_487:g.40285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2717C>T	ENSP00000455997.2:n.*2717C>T
ENST00000642206.2:c.4215C>T	ENSP00000495146.2:p.Leu1405=
ENST00000642365.2:c.4365C>T	ENSP00000495459.2:p.Leu1455=
ENST00000644417.2:c.*4748C>T	ENSP00000493912.2:n.*4748C>T
ENST00000646464.2:c.*7117C>T	ENSP00000496610.2:n.*7117C>T
ENST00000219476.9:c.4368C>T MANE Select	ENSP00000219476.3:p.Leu1456=
ENST00000350773.9:c.4299C>T	ENSP00000344383.4:p.Leu1433=
ENST00000401874.7:c.4167C>T	ENSP00000384468.2:p.Leu1389=
ENST00000568454.6:c.4200C>T	ENSP00000454487.1:p.Leu1400=
ENST00000569110.2:c.604C>T
ENST00000569930.2:n.2250C>T
ENST00000642365.1:c.3022C>T
ENST00000642561.1:c.4239C>T	ENSP00000495099.1:p.Leu1413=
ENST00000642728.1:n.550C>T
ENST00000642797.1:c.4170C>T	ENSP00000493846.1:p.Leu1390=
ENST00000642936.1:c.4236C>T	ENSP00000494514.1:p.Leu1412=
ENST00000643088.1:c.4167C>T	ENSP00000494747.1:p.Leu1389=
ENST00000643177.1:n.382C>T
ENST00000643426.1:n.2016C>T
ENST00000643946.1:c.4299C>T	ENSP00000495927.1:p.Leu1433=
ENST00000644043.1:c.4239C>T	ENSP00000496262.1:p.Leu1413=
ENST00000644329.1:c.4167C>T	ENSP00000496611.1:p.Leu1389=
ENST00000644335.1:c.4170C>T	ENSP00000496317.1:p.Leu1390=
ENST00000644399.1:c.4289C>T
ENST00000645024.1:n.2452C>T
ENST00000646388.1:c.4368C>T	ENSP00000495921.1:p.Leu1456=
ENST00000646634.1:n.3183C>T
ENST00000646674.1:n.1620C>T
ENST00000647042.1:n.1591C>T
ENST00000647180.1:n.1481C>T
ENST00000219476.7:c.4368C>T	ENSP00000219476.3:p.Leu1456=
ENST00000350773.8:c.4299C>T	ENSP00000344383.4:p.Leu1433=
ENST00000382538.10:c.4023C>T	ENSP00000371978.6:p.Leu1341=
ENST00000401874.6:c.4167C>T	ENSP00000384468.2:p.Leu1389=
ENST00000439117.6:c.*3535C>T	ENSP00000406980.2:n.*3535C>T
ENST00000439673.6:c.4059C>T	ENSP00000399232.2:p.Leu1353=
ENST00000497886.5:n.2126C>T
ENST00000568454.5:c.4200C>T	ENSP00000454487.1:p.Leu1400=
ENST00000569110.1:c.550C>T
ENST00000569930.1:n.1483C>T
NM_000548.3:c.4368C>T , LRG_487t1:c.4368C>T	NP_000539.2:p.Leu1456=
NM_001077183.1:c.4167C>T	NP_001070651.1:p.Leu1389=
NM_001114382.1:c.4299C>T	NP_001107854.1:p.Leu1433=
XM_005255529.3:c.4239C>T	XP_005255586.2:p.Leu1413=
XM_005255531.3:c.4170C>T	XP_005255588.2:p.Leu1390=
XM_011522636.1:c.4422C>T	XP_011520938.1:p.Leu1474=
XM_011522637.1:c.4419C>T	XP_011520939.1:p.Leu1473=
XM_011522638.1:c.4311C>T	XP_011520940.1:p.Leu1437=
XM_011522639.1:c.4293C>T	XP_011520941.1:p.Leu1431=
XM_011522640.1:c.4290C>T	XP_011520942.1:p.Leu1430=
XM_011522641.1:c.4059C>T	XP_011520943.1:p.Leu1353=
NM_000548.4:c.4368C>T	NP_000539.2:p.Leu1456=
NM_001077183.2:c.4167C>T	NP_001070651.1:p.Leu1389=
NM_001114382.2:c.4299C>T	NP_001107854.1:p.Leu1433=
NM_001318827.1:c.4059C>T	NP_001305756.1:p.Leu1353=
NM_001318829.1:c.4023C>T	NP_001305758.1:p.Leu1341=
NM_001318831.1:c.3636C>T	NP_001305760.1:p.Leu1212=
NM_001318832.1:c.4200C>T	NP_001305761.1:p.Leu1400=
NM_001363528.1:c.4170C>T	NP_001350457.1:p.Leu1390=
NM_021055.2:c.4239C>T	NP_066399.2:p.Leu1413=
XM_005255531.4:c.4170C>T	XP_005255588.2:p.Leu1390=
XM_011522636.2:c.4422C>T	XP_011520938.1:p.Leu1474=
XM_011522637.2:c.4419C>T	XP_011520939.1:p.Leu1473=
XM_011522638.2:c.4584C>T	XP_011520940.2:p.Leu1528=
XM_011522639.2:c.4293C>T	XP_011520941.1:p.Leu1431=
XM_011522640.2:c.4290C>T	XP_011520942.1:p.Leu1430=
XM_017023615.1:c.4365C>T	XP_016879104.1:p.Leu1455=
XM_017023616.1:c.4236C>T	XP_016879105.1:p.Leu1412=
XM_017023617.1:c.4332C>T	XP_016879106.1:p.Leu1444=
XM_017023618.1:c.3078C>T	XP_016879107.1:p.Leu1026=
XM_024450413.1:c.4167C>T	XP_024306181.1:p.Leu1389=
NM_000548.5:c.4368C>T MANE Select	NP_000539.2:p.Leu1456=
NM_001370404.1:c.4236C>T	NP_001357333.1:p.Leu1412=
NM_001370405.1:c.4239C>T	NP_001357334.1:p.Leu1413=
NM_001077183.3:c.4167C>T	NP_001070651.1:p.Leu1389=
NM_001114382.3:c.4299C>T	NP_001107854.1:p.Leu1433=
NM_001318827.2:c.4059C>T	NP_001305756.1:p.Leu1353=
NM_001318829.2:c.4023C>T	NP_001305758.1:p.Leu1341=
NM_001318831.2:c.3636C>T	NP_001305760.1:p.Leu1212=
NM_001318832.2:c.4200C>T	NP_001305761.1:p.Leu1400=
NM_001363528.2:c.4170C>T	NP_001350457.1:p.Leu1390=
NM_021055.3:c.4239C>T	NP_066399.2:p.Leu1413=