Canonical Allele Identifier: CA276750051

Gene: TSC2

Linked Data

• dbSNP Id: rs185457522
• gnomAD v3: 16-2081668-G-T
• gnomAD v4: 16-2081668-G-T
• MyVariant Identifiers: chr16:g.2131669G>T (hg19) ; chr16:g.2081668G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081668G>T , CM000678.2:g.2081668G>T	GRCh38
NC_000016.9:g.2131669G>T , CM000678.1:g.2131669G>T	GRCh37
NC_000016.8:g.2071670G>T	NCBI36
NG_005895.1:g.37363G>T , LRG_487:g.37363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2102G>T	ENSP00000455997.2:n.*2102G>T
ENST00000642206.2:c.3600G>T	ENSP00000495146.2:p.Leu1200=
ENST00000642365.2:c.3681G>T	ENSP00000495459.2:p.Leu1227=
ENST00000644417.2:c.*4133G>T	ENSP00000493912.2:n.*4133G>T
ENST00000646464.2:c.*4606G>T	ENSP00000496610.2:n.*4606G>T
ENST00000219476.9:c.3684G>T MANE Select	ENSP00000219476.3:p.Leu1228=
ENST00000350773.9:c.3684G>T	ENSP00000344383.4:p.Leu1228=
ENST00000401874.7:c.3552G>T	ENSP00000384468.2:p.Leu1184=
ENST00000568454.6:c.3585G>T	ENSP00000454487.1:p.Leu1195=
ENST00000642365.1:c.2338G>T
ENST00000642561.1:c.3555G>T	ENSP00000495099.1:p.Leu1185=
ENST00000642797.1:c.3555G>T	ENSP00000493846.1:p.Leu1185=
ENST00000642936.1:c.3552G>T	ENSP00000494514.1:p.Leu1184=
ENST00000643088.1:c.3552G>T	ENSP00000494747.1:p.Leu1184=
ENST00000643426.1:n.1332G>T
ENST00000643533.1:n.194G>T
ENST00000643946.1:c.3684G>T	ENSP00000495927.1:p.Leu1228=
ENST00000644043.1:c.3555G>T	ENSP00000496262.1:p.Leu1185=
ENST00000644329.1:c.3552G>T	ENSP00000496611.1:p.Leu1184=
ENST00000644335.1:c.3555G>T	ENSP00000496317.1:p.Leu1185=
ENST00000644399.1:c.3674G>T
ENST00000644722.1:n.830G>T
ENST00000645024.1:n.1837G>T
ENST00000646388.1:c.3684G>T	ENSP00000495921.1:p.Leu1228=
ENST00000646634.1:n.2568G>T
ENST00000646674.1:n.299G>T
ENST00000647042.1:n.976G>T
ENST00000647180.1:n.164G>T
ENST00000219476.7:c.3684G>T	ENSP00000219476.3:p.Leu1228=
ENST00000350773.8:c.3684G>T	ENSP00000344383.4:p.Leu1228=
ENST00000382538.10:c.3408G>T	ENSP00000371978.6:p.Leu1136=
ENST00000401874.6:c.3552G>T	ENSP00000384468.2:p.Leu1184=
ENST00000439117.6:c.*2851G>T	ENSP00000406980.2:n.*2851G>T
ENST00000439673.6:c.3444G>T	ENSP00000399232.2:p.Leu1148=
ENST00000497886.5:n.1511G>T
ENST00000568454.5:c.3585G>T	ENSP00000454487.1:p.Leu1195=
NM_000548.3:c.3684G>T , LRG_487t1:c.3684G>T	NP_000539.2:p.Leu1228=
NM_001077183.1:c.3552G>T	NP_001070651.1:p.Leu1184=
NM_001114382.1:c.3684G>T	NP_001107854.1:p.Leu1228=
XM_005255529.3:c.3555G>T	XP_005255586.2:p.Leu1185=
XM_005255531.3:c.3555G>T	XP_005255588.2:p.Leu1185=
XM_011522636.1:c.3684G>T	XP_011520938.1:p.Leu1228=
XM_011522637.1:c.3681G>T	XP_011520939.1:p.Leu1227=
XM_011522638.1:c.3573G>T	XP_011520940.1:p.Leu1191=
XM_011522639.1:c.3555G>T	XP_011520941.1:p.Leu1185=
XM_011522640.1:c.3552G>T	XP_011520942.1:p.Leu1184=
XM_011522641.1:c.3444G>T	XP_011520943.1:p.Leu1148=
NM_000548.4:c.3684G>T	NP_000539.2:p.Leu1228=
NM_001077183.2:c.3552G>T	NP_001070651.1:p.Leu1184=
NM_001114382.2:c.3684G>T	NP_001107854.1:p.Leu1228=
NM_001318827.1:c.3444G>T	NP_001305756.1:p.Leu1148=
NM_001318829.1:c.3408G>T	NP_001305758.1:p.Leu1136=
NM_001318831.1:c.2952G>T	NP_001305760.1:p.Leu984=
NM_001318832.1:c.3585G>T	NP_001305761.1:p.Leu1195=
NM_001363528.1:c.3555G>T	NP_001350457.1:p.Leu1185=
NM_021055.2:c.3555G>T	NP_066399.2:p.Leu1185=
XM_005255531.4:c.3555G>T	XP_005255588.2:p.Leu1185=
XM_011522636.2:c.3684G>T	XP_011520938.1:p.Leu1228=
XM_011522637.2:c.3681G>T	XP_011520939.1:p.Leu1227=
XM_011522638.2:c.3846G>T	XP_011520940.2:p.Leu1282=
XM_011522639.2:c.3555G>T	XP_011520941.1:p.Leu1185=
XM_011522640.2:c.3552G>T	XP_011520942.1:p.Leu1184=
XM_017023615.1:c.3681G>T	XP_016879104.1:p.Leu1227=
XM_017023616.1:c.3552G>T	XP_016879105.1:p.Leu1184=
XM_017023617.1:c.3717G>T	XP_016879106.1:p.Leu1239=
XM_017023618.1:c.2340G>T	XP_016879107.1:p.Leu780=
XM_024450413.1:c.3552G>T	XP_024306181.1:p.Leu1184=
NM_000548.5:c.3684G>T MANE Select	NP_000539.2:p.Leu1228=
NM_001370404.1:c.3552G>T	NP_001357333.1:p.Leu1184=
NM_001370405.1:c.3555G>T	NP_001357334.1:p.Leu1185=
NM_001077183.3:c.3552G>T	NP_001070651.1:p.Leu1184=
NM_001114382.3:c.3684G>T	NP_001107854.1:p.Leu1228=
NM_001318827.2:c.3444G>T	NP_001305756.1:p.Leu1148=
NM_001318829.2:c.3408G>T	NP_001305758.1:p.Leu1136=
NM_001318831.2:c.2952G>T	NP_001305760.1:p.Leu984=
NM_001318832.2:c.3585G>T	NP_001305761.1:p.Leu1195=
NM_001363528.2:c.3555G>T	NP_001350457.1:p.Leu1185=
NM_021055.3:c.3555G>T	NP_066399.2:p.Leu1185=