Canonical Allele Identifier: CA394297480

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2837265
• ClinVar RCV Id: RCV003628312
• dbSNP Id: rs587778737
• MyVariant Identifiers: chr16:g.2133775G>T (hg19) ; chr16:g.2083774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2083774G>T , CM000678.2:g.2083774G>T	GRCh38
NC_000016.9:g.2133775G>T , CM000678.1:g.2133775G>T	GRCh37
NC_000016.8:g.2073776G>T	NCBI36
NG_005895.1:g.39469G>T , LRG_487:g.39469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2312G>T	ENSP00000455997.2:n.*2312G>T
ENST00000642206.2:c.3810G>T	ENSP00000495146.2:p.Glu1270Asp
ENST00000642365.2:c.3960G>T	ENSP00000495459.2:p.Glu1320Asp
ENST00000644417.2:c.*4343G>T	ENSP00000493912.2:n.*4343G>T
ENST00000646464.2:c.*6712G>T	ENSP00000496610.2:n.*6712G>T
ENST00000219476.9:c.3963G>T MANE Select	ENSP00000219476.3:p.Glu1321Asp
ENST00000350773.9:c.3894G>T	ENSP00000344383.4:p.Glu1298Asp
ENST00000401874.7:c.3762G>T	ENSP00000384468.2:p.Glu1254Asp
ENST00000568454.6:c.3795G>T	ENSP00000454487.1:p.Glu1265Asp
ENST00000569110.2:c.199G>T
ENST00000569930.2:n.1845G>T
ENST00000642365.1:c.2617G>T
ENST00000642561.1:c.3834G>T	ENSP00000495099.1:p.Glu1278Asp
ENST00000642728.1:n.145G>T
ENST00000642797.1:c.3765G>T	ENSP00000493846.1:p.Glu1255Asp
ENST00000642936.1:c.3831G>T	ENSP00000494514.1:p.Glu1277Asp
ENST00000643088.1:c.3762G>T	ENSP00000494747.1:p.Glu1254Asp
ENST00000643426.1:n.1611G>T
ENST00000643533.1:n.404G>T
ENST00000643946.1:c.3894G>T	ENSP00000495927.1:p.Glu1298Asp
ENST00000644043.1:c.3834G>T	ENSP00000496262.1:p.Glu1278Asp
ENST00000644329.1:c.3762G>T	ENSP00000496611.1:p.Glu1254Asp
ENST00000644335.1:c.3765G>T	ENSP00000496317.1:p.Glu1255Asp
ENST00000644399.1:c.3884G>T
ENST00000645024.1:n.2047G>T
ENST00000645186.1:c.206G>T
ENST00000646388.1:c.3963G>T	ENSP00000495921.1:p.Glu1321Asp
ENST00000646634.1:n.2778G>T
ENST00000646674.1:n.1215G>T
ENST00000647042.1:n.1186G>T
ENST00000647180.1:n.1076G>T
ENST00000219476.7:c.3963G>T	ENSP00000219476.3:p.Glu1321Asp
ENST00000350773.8:c.3894G>T	ENSP00000344383.4:p.Glu1298Asp
ENST00000382538.10:c.3618G>T	ENSP00000371978.6:p.Glu1206Asp
ENST00000401874.6:c.3762G>T	ENSP00000384468.2:p.Glu1254Asp
ENST00000439117.6:c.*3130G>T	ENSP00000406980.2:n.*3130G>T
ENST00000439673.6:c.3654G>T	ENSP00000399232.2:p.Glu1218Asp
ENST00000497886.5:n.1721G>T
ENST00000568454.5:c.3795G>T	ENSP00000454487.1:p.Glu1265Asp
ENST00000569110.1:c.145G>T
ENST00000569930.1:n.1078G>T
NM_000548.3:c.3963G>T , LRG_487t1:c.3963G>T	NP_000539.2:p.Glu1321Asp
NM_001077183.1:c.3762G>T	NP_001070651.1:p.Glu1254Asp
NM_001114382.1:c.3894G>T	NP_001107854.1:p.Glu1298Asp
XM_005255529.3:c.3834G>T	XP_005255586.2:p.Glu1278Asp
XM_005255531.3:c.3765G>T	XP_005255588.2:p.Glu1255Asp
XM_011522636.1:c.4017G>T	XP_011520938.1:p.Glu1339Asp
XM_011522637.1:c.4014G>T	XP_011520939.1:p.Glu1338Asp
XM_011522638.1:c.3906G>T	XP_011520940.1:p.Glu1302Asp
XM_011522639.1:c.3888G>T	XP_011520941.1:p.Glu1296Asp
XM_011522640.1:c.3885G>T	XP_011520942.1:p.Glu1295Asp
XM_011522641.1:c.3654G>T	XP_011520943.1:p.Glu1218Asp
NM_000548.4:c.3963G>T	NP_000539.2:p.Glu1321Asp
NM_001077183.2:c.3762G>T	NP_001070651.1:p.Glu1254Asp
NM_001114382.2:c.3894G>T	NP_001107854.1:p.Glu1298Asp
NM_001318827.1:c.3654G>T	NP_001305756.1:p.Glu1218Asp
NM_001318829.1:c.3618G>T	NP_001305758.1:p.Glu1206Asp
NM_001318831.1:c.3231G>T	NP_001305760.1:p.Glu1077Asp
NM_001318832.1:c.3795G>T	NP_001305761.1:p.Glu1265Asp
NM_001363528.1:c.3765G>T	NP_001350457.1:p.Glu1255Asp
NM_021055.2:c.3834G>T	NP_066399.2:p.Glu1278Asp
XM_005255531.4:c.3765G>T	XP_005255588.2:p.Glu1255Asp
XM_011522636.2:c.4017G>T	XP_011520938.1:p.Glu1339Asp
XM_011522637.2:c.4014G>T	XP_011520939.1:p.Glu1338Asp
XM_011522638.2:c.4179G>T	XP_011520940.2:p.Glu1393Asp
XM_011522639.2:c.3888G>T	XP_011520941.1:p.Glu1296Asp
XM_011522640.2:c.3885G>T	XP_011520942.1:p.Glu1295Asp
XM_017023615.1:c.3960G>T	XP_016879104.1:p.Glu1320Asp
XM_017023616.1:c.3831G>T	XP_016879105.1:p.Glu1277Asp
XM_017023617.1:c.3927G>T	XP_016879106.1:p.Glu1309Asp
XM_017023618.1:c.2673G>T	XP_016879107.1:p.Glu891Asp
XM_024450413.1:c.3762G>T	XP_024306181.1:p.Glu1254Asp
NM_000548.5:c.3963G>T MANE Select	NP_000539.2:p.Glu1321Asp
NM_001370404.1:c.3831G>T	NP_001357333.1:p.Glu1277Asp
NM_001370405.1:c.3834G>T	NP_001357334.1:p.Glu1278Asp
NM_001077183.3:c.3762G>T	NP_001070651.1:p.Glu1254Asp
NM_001114382.3:c.3894G>T	NP_001107854.1:p.Glu1298Asp
NM_001318827.2:c.3654G>T	NP_001305756.1:p.Glu1218Asp
NM_001318829.2:c.3618G>T	NP_001305758.1:p.Glu1206Asp
NM_001318831.2:c.3231G>T	NP_001305760.1:p.Glu1077Asp
NM_001318832.2:c.3795G>T	NP_001305761.1:p.Glu1265Asp
NM_001363528.2:c.3765G>T	NP_001350457.1:p.Glu1255Asp
NM_021055.3:c.3834G>T	NP_066399.2:p.Glu1278Asp