Canonical Allele Identifier: CA492949720

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1161147
• ClinVar RCV Id: RCV001505543
• dbSNP Id: rs141285742
• gnomAD v2: 16-2120492-G-T
• gnomAD v4: 16-2070491-G-T
• MyVariant Identifiers: chr16:g.2120492G>T (hg19) ; chr16:g.2070491G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2070491G>T , CM000678.2:g.2070491G>T	GRCh38
NC_000016.9:g.2120492G>T , CM000678.1:g.2120492G>T	GRCh37
NC_000016.8:g.2060493G>T	NCBI36
NG_005895.1:g.26186G>T , LRG_487:g.26186G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*299G>T	ENSP00000455997.2:n.*299G>T
ENST00000642206.2:c.1797G>T	ENSP00000495146.2:p.Thr599=
ENST00000642365.2:c.1752G>T	ENSP00000495459.2:p.Thr584=
ENST00000644417.2:c.*1189G>T	ENSP00000493912.2:n.*1189G>T
ENST00000646464.2:c.*1357G>T	ENSP00000496610.2:n.*1357G>T
ENST00000219476.9:c.1752G>T MANE Select	ENSP00000219476.3:p.Thr584=
ENST00000350773.9:c.1752G>T	ENSP00000344383.4:p.Thr584=
ENST00000401874.7:c.1752G>T	ENSP00000384468.2:p.Thr584=
ENST00000568454.6:c.1785G>T	ENSP00000454487.1:p.Thr595=
ENST00000642365.1:c.409G>T
ENST00000642561.1:c.1752G>T	ENSP00000495099.1:p.Thr584=
ENST00000642797.1:c.1752G>T	ENSP00000493846.1:p.Thr584=
ENST00000642936.1:c.1752G>T	ENSP00000494514.1:p.Thr584=
ENST00000643088.1:c.1752G>T	ENSP00000494747.1:p.Thr584=
ENST00000643298.1:c.*1254G>T	ENSP00000494393.1:n.*1254G>T
ENST00000643946.1:c.1752G>T	ENSP00000495927.1:p.Thr584=
ENST00000644043.1:c.1752G>T	ENSP00000496262.1:p.Thr584=
ENST00000644135.1:c.*252G>T	ENSP00000495644.1:n.*252G>T
ENST00000644329.1:c.1752G>T	ENSP00000496611.1:p.Thr584=
ENST00000644335.1:c.1752G>T	ENSP00000496317.1:p.Thr584=
ENST00000644399.1:c.1745G>T
ENST00000644847.1:n.744G>T
ENST00000645552.1:n.32G>T
ENST00000646388.1:c.1752G>T	ENSP00000495921.1:p.Thr584=
ENST00000646634.1:n.765G>T
ENST00000219476.7:c.1752G>T	ENSP00000219476.3:p.Thr584=
ENST00000350773.8:c.1752G>T	ENSP00000344383.4:p.Thr584=
ENST00000382538.10:c.1605G>T	ENSP00000371978.6:p.Thr535=
ENST00000401874.6:c.1752G>T	ENSP00000384468.2:p.Thr584=
ENST00000439117.6:c.*1051G>T	ENSP00000406980.2:n.*1051G>T
ENST00000439673.6:c.1641G>T	ENSP00000399232.2:p.Thr547=
ENST00000488675.5:n.259G>T
ENST00000562474.1:n.477G>T
ENST00000568454.5:c.1785G>T	ENSP00000454487.1:p.Thr595=
ENST00000568566.5:c.392G>T	ENSP00000455997.1:n.392G>T
NM_000548.3:c.1752G>T , LRG_487t1:c.1752G>T	NP_000539.2:p.Thr584=
NM_001077183.1:c.1752G>T	NP_001070651.1:p.Thr584=
NM_001114382.1:c.1752G>T	NP_001107854.1:p.Thr584=
XM_005255529.3:c.1752G>T	XP_005255586.2:p.Thr584=
XM_005255531.3:c.1752G>T	XP_005255588.2:p.Thr584=
XM_011522636.1:c.1752G>T	XP_011520938.1:p.Thr584=
XM_011522637.1:c.1752G>T	XP_011520939.1:p.Thr584=
XM_011522638.1:c.1641G>T	XP_011520940.1:p.Thr547=
XM_011522639.1:c.1752G>T	XP_011520941.1:p.Thr584=
XM_011522640.1:c.1752G>T	XP_011520942.1:p.Thr584=
XM_011522641.1:c.1641G>T	XP_011520943.1:p.Thr547=
NM_000548.4:c.1752G>T	NP_000539.2:p.Thr584=
NM_001077183.2:c.1752G>T	NP_001070651.1:p.Thr584=
NM_001114382.2:c.1752G>T	NP_001107854.1:p.Thr584=
NM_001318827.1:c.1641G>T	NP_001305756.1:p.Thr547=
NM_001318829.1:c.1605G>T	NP_001305758.1:p.Thr535=
NM_001318831.1:c.1152G>T	NP_001305760.1:p.Thr384=
NM_001318832.1:c.1785G>T	NP_001305761.1:p.Thr595=
NM_001363528.1:c.1752G>T	NP_001350457.1:p.Thr584=
NM_021055.2:c.1752G>T	NP_066399.2:p.Thr584=
XM_005255531.4:c.1752G>T	XP_005255588.2:p.Thr584=
XM_011522636.2:c.1752G>T	XP_011520938.1:p.Thr584=
XM_011522637.2:c.1752G>T	XP_011520939.1:p.Thr584=
XM_011522638.2:c.1914G>T	XP_011520940.2:p.Thr638=
XM_011522639.2:c.1752G>T	XP_011520941.1:p.Thr584=
XM_011522640.2:c.1752G>T	XP_011520942.1:p.Thr584=
XM_017023615.1:c.1752G>T	XP_016879104.1:p.Thr584=
XM_017023616.1:c.1752G>T	XP_016879105.1:p.Thr584=
XM_017023617.1:c.1914G>T	XP_016879106.1:p.Thr638=
XM_017023618.1:c.408G>T	XP_016879107.1:p.Thr136=
XM_024450413.1:c.1752G>T	XP_024306181.1:p.Thr584=
NM_000548.5:c.1752G>T MANE Select	NP_000539.2:p.Thr584=
NM_001370404.1:c.1752G>T	NP_001357333.1:p.Thr584=
NM_001370405.1:c.1752G>T	NP_001357334.1:p.Thr584=
NM_001077183.3:c.1752G>T	NP_001070651.1:p.Thr584=
NM_001114382.3:c.1752G>T	NP_001107854.1:p.Thr584=
NM_001318827.2:c.1641G>T	NP_001305756.1:p.Thr547=
NM_001318829.2:c.1605G>T	NP_001305758.1:p.Thr535=
NM_001318831.2:c.1152G>T	NP_001305760.1:p.Thr384=
NM_001318832.2:c.1785G>T	NP_001305761.1:p.Thr595=
NM_001363528.2:c.1752G>T	NP_001350457.1:p.Thr584=
NM_021055.3:c.1752G>T	NP_066399.2:p.Thr584=