Canonical Allele Identifier: CA394302908

Gene: TSC2

Linked Data

• gnomAD v4: 16-2084994-G-C
• MyVariant Identifiers: chr16:g.2134995G>C (hg19) ; chr16:g.2084994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084994G>C , CM000678.2:g.2084994G>C	GRCh38
NC_000016.9:g.2134995G>C , CM000678.1:g.2134995G>C	GRCh37
NC_000016.8:g.2074996G>C	NCBI36
NG_005895.1:g.40689G>C , LRG_487:g.40689G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2886G>C	ENSP00000455997.2:n.*2886G>C
ENST00000642206.2:c.4384G>C	ENSP00000495146.2:p.Glu1462Gln
ENST00000642365.2:c.4534G>C	ENSP00000495459.2:p.Glu1512Gln
ENST00000644417.2:c.*4917G>C	ENSP00000493912.2:n.*4917G>C
ENST00000646464.2:c.*7286G>C	ENSP00000496610.2:n.*7286G>C
ENST00000219476.9:c.4537G>C MANE Select	ENSP00000219476.3:p.Glu1513Gln
ENST00000350773.9:c.4468G>C	ENSP00000344383.4:p.Glu1490Gln
ENST00000401874.7:c.4336G>C	ENSP00000384468.2:p.Glu1446Gln
ENST00000568454.6:c.4369G>C	ENSP00000454487.1:p.Glu1457Gln
ENST00000569110.2:c.760G>C
ENST00000569930.2:n.2419G>C
ENST00000642365.1:c.3191G>C
ENST00000642561.1:c.4408G>C	ENSP00000495099.1:p.Glu1470Gln
ENST00000642728.1:n.719G>C
ENST00000642797.1:c.4339G>C	ENSP00000493846.1:p.Glu1447Gln
ENST00000642936.1:c.4405G>C	ENSP00000494514.1:p.Glu1469Gln
ENST00000643088.1:c.4336G>C	ENSP00000494747.1:p.Glu1446Gln
ENST00000643177.1:n.551G>C
ENST00000643426.1:n.2185G>C
ENST00000643946.1:c.4468G>C	ENSP00000495927.1:p.Glu1490Gln
ENST00000644043.1:c.4408G>C	ENSP00000496262.1:p.Glu1470Gln
ENST00000644329.1:c.4336G>C	ENSP00000496611.1:p.Glu1446Gln
ENST00000644335.1:c.4339G>C	ENSP00000496317.1:p.Glu1447Gln
ENST00000644399.1:c.4458G>C
ENST00000645024.1:n.2621G>C
ENST00000646388.1:c.4537G>C	ENSP00000495921.1:p.Glu1513Gln
ENST00000646634.1:n.3352G>C
ENST00000646674.1:n.1789G>C
ENST00000647042.1:n.1760G>C
ENST00000647180.1:n.1650G>C
ENST00000219476.7:c.4537G>C	ENSP00000219476.3:p.Glu1513Gln
ENST00000350773.8:c.4468G>C	ENSP00000344383.4:p.Glu1490Gln
ENST00000382538.10:c.4192G>C	ENSP00000371978.6:p.Glu1398Gln
ENST00000401874.6:c.4336G>C	ENSP00000384468.2:p.Glu1446Gln
ENST00000439117.6:c.*3704G>C	ENSP00000406980.2:n.*3704G>C
ENST00000439673.6:c.4228G>C	ENSP00000399232.2:p.Glu1410Gln
ENST00000497886.5:n.2295G>C
ENST00000568454.5:c.4369G>C	ENSP00000454487.1:p.Glu1457Gln
ENST00000569110.1:c.719G>C
ENST00000569930.1:n.1652G>C
NM_000548.3:c.4537G>C , LRG_487t1:c.4537G>C	NP_000539.2:p.Glu1513Gln
NM_001077183.1:c.4336G>C	NP_001070651.1:p.Glu1446Gln
NM_001114382.1:c.4468G>C	NP_001107854.1:p.Glu1490Gln
XM_005255529.3:c.4408G>C	XP_005255586.2:p.Glu1470Gln
XM_005255531.3:c.4339G>C	XP_005255588.2:p.Glu1447Gln
XM_011522636.1:c.4591G>C	XP_011520938.1:p.Glu1531Gln
XM_011522637.1:c.4588G>C	XP_011520939.1:p.Glu1530Gln
XM_011522638.1:c.4480G>C	XP_011520940.1:p.Glu1494Gln
XM_011522639.1:c.4462G>C	XP_011520941.1:p.Glu1488Gln
XM_011522640.1:c.4459G>C	XP_011520942.1:p.Glu1487Gln
XM_011522641.1:c.4228G>C	XP_011520943.1:p.Glu1410Gln
NM_000548.4:c.4537G>C	NP_000539.2:p.Glu1513Gln
NM_001077183.2:c.4336G>C	NP_001070651.1:p.Glu1446Gln
NM_001114382.2:c.4468G>C	NP_001107854.1:p.Glu1490Gln
NM_001318827.1:c.4228G>C	NP_001305756.1:p.Glu1410Gln
NM_001318829.1:c.4192G>C	NP_001305758.1:p.Glu1398Gln
NM_001318831.1:c.3805G>C	NP_001305760.1:p.Glu1269Gln
NM_001318832.1:c.4369G>C	NP_001305761.1:p.Glu1457Gln
NM_001363528.1:c.4339G>C	NP_001350457.1:p.Glu1447Gln
NM_021055.2:c.4408G>C	NP_066399.2:p.Glu1470Gln
XM_005255531.4:c.4339G>C	XP_005255588.2:p.Glu1447Gln
XM_011522636.2:c.4591G>C	XP_011520938.1:p.Glu1531Gln
XM_011522637.2:c.4588G>C	XP_011520939.1:p.Glu1530Gln
XM_011522638.2:c.4753G>C	XP_011520940.2:p.Glu1585Gln
XM_011522639.2:c.4462G>C	XP_011520941.1:p.Glu1488Gln
XM_011522640.2:c.4459G>C	XP_011520942.1:p.Glu1487Gln
XM_017023615.1:c.4534G>C	XP_016879104.1:p.Glu1512Gln
XM_017023616.1:c.4405G>C	XP_016879105.1:p.Glu1469Gln
XM_017023617.1:c.4501G>C	XP_016879106.1:p.Glu1501Gln
XM_017023618.1:c.3247G>C	XP_016879107.1:p.Glu1083Gln
XM_024450413.1:c.4336G>C	XP_024306181.1:p.Glu1446Gln
NM_000548.5:c.4537G>C MANE Select	NP_000539.2:p.Glu1513Gln
NM_001370404.1:c.4405G>C	NP_001357333.1:p.Glu1469Gln
NM_001370405.1:c.4408G>C	NP_001357334.1:p.Glu1470Gln
NM_001077183.3:c.4336G>C	NP_001070651.1:p.Glu1446Gln
NM_001114382.3:c.4468G>C	NP_001107854.1:p.Glu1490Gln
NM_001318827.2:c.4228G>C	NP_001305756.1:p.Glu1410Gln
NM_001318829.2:c.4192G>C	NP_001305758.1:p.Glu1398Gln
NM_001318831.2:c.3805G>C	NP_001305760.1:p.Glu1269Gln
NM_001318832.2:c.4369G>C	NP_001305761.1:p.Glu1457Gln
NM_001363528.2:c.4339G>C	NP_001350457.1:p.Glu1447Gln
NM_021055.3:c.4408G>C	NP_066399.2:p.Glu1470Gln