Canonical Allele Identifier: CA394301702

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1043681
• ClinVar RCV Id: RCV001347824 ; RCV002368143
• dbSNP Id: rs1385450866
• gnomAD v2: 16-2098738-C-T
• gnomAD v4: 16-2048737-C-T
• MyVariant Identifiers: chr16:g.2098738C>T (hg19) ; chr16:g.2048737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2048737C>T , CM000678.2:g.2048737C>T	GRCh38
NC_000016.9:g.2098738C>T , CM000678.1:g.2098738C>T	GRCh37
NC_000016.8:g.2038739C>T	NCBI36
NG_005895.1:g.4432C>T , LRG_487:g.4432C>T
NG_008412.1:g.4130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.122C>T	ENSP00000455997.2:p.Thr41Ile
ENST00000642206.2:c.122C>T	ENSP00000495146.2:p.Thr41Ile
ENST00000642365.2:c.122C>T	ENSP00000495459.2:p.Thr41Ile
ENST00000644417.2:c.122C>T	ENSP00000493912.2:p.Thr41Ile
ENST00000646464.2:c.122C>T	ENSP00000496610.2:p.Thr41Ile
ENST00000219476.9:c.122C>T MANE Select	ENSP00000219476.3:p.Thr41Ile
ENST00000350773.9:c.122C>T	ENSP00000344383.4:p.Thr41Ile
ENST00000401874.7:c.122C>T	ENSP00000384468.2:p.Thr41Ile
ENST00000461648.3:n.232C>T
ENST00000568454.6:c.155C>T	ENSP00000454487.1:p.Thr52Ile
ENST00000568692.2:n.2C>T
ENST00000642206.1:c.122C>T	ENSP00000495146.1:p.Thr41Ile
ENST00000642561.1:c.122C>T	ENSP00000495099.1:p.Thr41Ile
ENST00000642797.1:c.122C>T	ENSP00000493846.1:p.Thr41Ile
ENST00000642812.1:n.179C>T
ENST00000642936.1:c.122C>T	ENSP00000494514.1:p.Thr41Ile
ENST00000643088.1:c.122C>T	ENSP00000494747.1:p.Thr41Ile
ENST00000643149.1:n.232C>T
ENST00000643298.1:c.122C>T	ENSP00000494393.1:p.Thr41Ile
ENST00000643745.1:c.122C>T	ENSP00000495948.1:p.Thr41Ile
ENST00000643946.1:c.122C>T	ENSP00000495927.1:p.Thr41Ile
ENST00000644043.1:c.122C>T	ENSP00000496262.1:p.Thr41Ile
ENST00000644135.1:c.122C>T	ENSP00000495644.1:p.Thr41Ile
ENST00000644222.1:n.209C>T
ENST00000644329.1:c.122C>T	ENSP00000496611.1:p.Thr41Ile
ENST00000644335.1:c.122C>T	ENSP00000496317.1:p.Thr41Ile
ENST00000644399.1:c.115C>T
ENST00000644665.1:n.239C>T
ENST00000645591.1:n.250C>T
ENST00000646388.1:c.122C>T	ENSP00000495921.1:p.Thr41Ile
ENST00000219476.7:c.122C>T	ENSP00000219476.3:p.Thr41Ile
ENST00000350773.8:c.122C>T	ENSP00000344383.4:p.Thr41Ile
ENST00000382538.10:c.-10+672C>T	ENSP00000371978.6:n.-10+672C>T
ENST00000401874.6:c.122C>T	ENSP00000384468.2:p.Thr41Ile
ENST00000439117.6:c.122C>T	ENSP00000406980.2:p.Thr41Ile
ENST00000439673.6:c.122C>T	ENSP00000399232.2:p.Thr41Ile
ENST00000461648.2:n.227C>T
ENST00000568454.5:c.155C>T	ENSP00000454487.1:p.Thr52Ile
NM_000548.3:c.122C>T , LRG_487t1:c.122C>T	NP_000539.2:p.Thr41Ile
NM_001077183.1:c.122C>T	NP_001070651.1:p.Thr41Ile
NM_001114382.1:c.122C>T	NP_001107854.1:p.Thr41Ile
XM_005255529.3:c.122C>T	XP_005255586.2:p.Thr41Ile
XM_005255531.3:c.122C>T	XP_005255588.2:p.Thr41Ile
XM_011522636.1:c.122C>T	XP_011520938.1:p.Thr41Ile
XM_011522637.1:c.122C>T	XP_011520939.1:p.Thr41Ile
XM_011522638.1:c.122C>T	XP_011520940.1:p.Thr41Ile
XM_011522639.1:c.122C>T	XP_011520941.1:p.Thr41Ile
XM_011522640.1:c.122C>T	XP_011520942.1:p.Thr41Ile
XM_011522641.1:c.122C>T	XP_011520943.1:p.Thr41Ile
NM_000548.4:c.122C>T	NP_000539.2:p.Thr41Ile
NM_001077183.2:c.122C>T	NP_001070651.1:p.Thr41Ile
NM_001114382.2:c.122C>T	NP_001107854.1:p.Thr41Ile
NM_001318827.1:c.122C>T	NP_001305756.1:p.Thr41Ile
NM_001318829.1:c.-10+672C>T	NP_001305758.1:n.-10+672C>T
NM_001318831.1:c.-105C>T	NP_001305760.1:n.-105C>T
NM_001318832.1:c.155C>T	NP_001305761.1:p.Thr52Ile
NM_001363528.1:c.122C>T	NP_001350457.1:p.Thr41Ile
NM_021055.2:c.122C>T	NP_066399.2:p.Thr41Ile
XM_005255531.4:c.122C>T	XP_005255588.2:p.Thr41Ile
XM_011522636.2:c.122C>T	XP_011520938.1:p.Thr41Ile
XM_011522637.2:c.122C>T	XP_011520939.1:p.Thr41Ile
XM_011522638.2:c.395C>T	XP_011520940.2:p.Thr132Ile
XM_011522639.2:c.122C>T	XP_011520941.1:p.Thr41Ile
XM_011522640.2:c.122C>T	XP_011520942.1:p.Thr41Ile
XM_017023615.1:c.122C>T	XP_016879104.1:p.Thr41Ile
XM_017023616.1:c.122C>T	XP_016879105.1:p.Thr41Ile
XM_017023617.1:c.395C>T	XP_016879106.1:p.Thr132Ile
XM_017023618.1:c.-1310C>T	XP_016879107.1:n.-1310C>T
XM_024450413.1:c.122C>T	XP_024306181.1:p.Thr41Ile
NM_000548.5:c.122C>T MANE Select	NP_000539.2:p.Thr41Ile
NM_001370404.1:c.122C>T	NP_001357333.1:p.Thr41Ile
NM_001370405.1:c.122C>T	NP_001357334.1:p.Thr41Ile
NM_001077183.3:c.122C>T	NP_001070651.1:p.Thr41Ile
NM_001114382.3:c.122C>T	NP_001107854.1:p.Thr41Ile
NM_001318827.2:c.122C>T	NP_001305756.1:p.Thr41Ile
NM_001318829.2:c.-10+672C>T	NP_001305758.1:n.-10+672C>T
NM_001318831.2:c.-105C>T	NP_001305760.1:n.-105C>T
NM_001318832.2:c.155C>T	NP_001305761.1:p.Thr52Ile
NM_001363528.2:c.122C>T	NP_001350457.1:p.Thr41Ile
NM_021055.3:c.122C>T	NP_066399.2:p.Thr41Ile