Canonical Allele Identifier: CA394304672

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1400703
• ClinVar RCV Id: RCV001911450
• dbSNP Id: rs2151551661
• MyVariant Identifiers: chr16:g.2135268A>G (hg19) ; chr16:g.2085267A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085267A>G , CM000678.2:g.2085267A>G	GRCh38
NC_000016.9:g.2135268A>G , CM000678.1:g.2135268A>G	GRCh37
NC_000016.8:g.2075269A>G	NCBI36
NG_005895.1:g.40962A>G , LRG_487:g.40962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2956A>G	ENSP00000455997.2:n.*2956A>G
ENST00000642206.2:c.4454A>G	ENSP00000495146.2:p.Gln1485Arg
ENST00000642365.2:c.4604A>G	ENSP00000495459.2:p.Gln1535Arg
ENST00000644417.2:c.*4987A>G	ENSP00000493912.2:n.*4987A>G
ENST00000646464.2:c.*7356A>G	ENSP00000496610.2:n.*7356A>G
ENST00000219476.9:c.4607A>G MANE Select	ENSP00000219476.3:p.Gln1536Arg
ENST00000350773.9:c.4538A>G	ENSP00000344383.4:p.Gln1513Arg
ENST00000401874.7:c.4406A>G	ENSP00000384468.2:p.Gln1469Arg
ENST00000568454.6:c.4439A>G	ENSP00000454487.1:p.Gln1480Arg
ENST00000569110.2:c.830A>G
ENST00000569930.2:n.2489A>G
ENST00000642365.1:c.3261A>G
ENST00000642561.1:c.4478A>G	ENSP00000495099.1:p.Gln1493Arg
ENST00000642728.1:n.789A>G
ENST00000642791.1:n.204A>G
ENST00000642797.1:c.4409A>G	ENSP00000493846.1:p.Gln1470Arg
ENST00000642936.1:c.4475A>G	ENSP00000494514.1:p.Gln1492Arg
ENST00000643088.1:c.4400A>G	ENSP00000494747.1:p.Gln1467Arg
ENST00000643177.1:n.621A>G
ENST00000643426.1:n.2255A>G
ENST00000643946.1:c.4532A>G	ENSP00000495927.1:p.Gln1511Arg
ENST00000644043.1:c.4478A>G	ENSP00000496262.1:p.Gln1493Arg
ENST00000644278.1:n.89A>G
ENST00000644329.1:c.4406A>G	ENSP00000496611.1:p.Gln1469Arg
ENST00000644335.1:c.4403A>G	ENSP00000496317.1:p.Gln1468Arg
ENST00000644399.1:c.4528A>G
ENST00000645024.1:n.2691A>G
ENST00000646388.1:c.4601A>G	ENSP00000495921.1:p.Gln1534Arg
ENST00000646634.1:n.3422A>G
ENST00000646674.1:n.1859A>G
ENST00000647042.1:n.1830A>G
ENST00000647180.1:n.1720A>G
ENST00000219476.7:c.4607A>G	ENSP00000219476.3:p.Gln1536Arg
ENST00000350773.8:c.4538A>G	ENSP00000344383.4:p.Gln1513Arg
ENST00000382538.10:c.4262A>G	ENSP00000371978.6:p.Gln1421Arg
ENST00000401874.6:c.4406A>G	ENSP00000384468.2:p.Gln1469Arg
ENST00000439117.6:c.*3774A>G	ENSP00000406980.2:n.*3774A>G
ENST00000439673.6:c.4298A>G	ENSP00000399232.2:p.Gln1433Arg
ENST00000497886.5:n.2365A>G
ENST00000568454.5:c.4439A>G	ENSP00000454487.1:p.Gln1480Arg
ENST00000569110.1:c.789A>G
ENST00000569930.1:n.1722A>G
NM_000548.3:c.4607A>G , LRG_487t1:c.4607A>G	NP_000539.2:p.Gln1536Arg
NM_001077183.1:c.4406A>G	NP_001070651.1:p.Gln1469Arg
NM_001114382.1:c.4538A>G	NP_001107854.1:p.Gln1513Arg
XM_005255529.3:c.4478A>G	XP_005255586.2:p.Gln1493Arg
XM_005255531.3:c.4409A>G	XP_005255588.2:p.Gln1470Arg
XM_011522636.1:c.4661A>G	XP_011520938.1:p.Gln1554Arg
XM_011522637.1:c.4658A>G	XP_011520939.1:p.Gln1553Arg
XM_011522638.1:c.4550A>G	XP_011520940.1:p.Gln1517Arg
XM_011522639.1:c.4532A>G	XP_011520941.1:p.Gln1511Arg
XM_011522640.1:c.4529A>G	XP_011520942.1:p.Gln1510Arg
XM_011522641.1:c.4298A>G	XP_011520943.1:p.Gln1433Arg
NM_000548.4:c.4607A>G	NP_000539.2:p.Gln1536Arg
NM_001077183.2:c.4406A>G	NP_001070651.1:p.Gln1469Arg
NM_001114382.2:c.4538A>G	NP_001107854.1:p.Gln1513Arg
NM_001318827.1:c.4298A>G	NP_001305756.1:p.Gln1433Arg
NM_001318829.1:c.4262A>G	NP_001305758.1:p.Gln1421Arg
NM_001318831.1:c.3875A>G	NP_001305760.1:p.Gln1292Arg
NM_001318832.1:c.4439A>G	NP_001305761.1:p.Gln1480Arg
NM_001363528.1:c.4409A>G	NP_001350457.1:p.Gln1470Arg
NM_021055.2:c.4478A>G	NP_066399.2:p.Gln1493Arg
XM_005255531.4:c.4409A>G	XP_005255588.2:p.Gln1470Arg
XM_011522636.2:c.4661A>G	XP_011520938.1:p.Gln1554Arg
XM_011522637.2:c.4658A>G	XP_011520939.1:p.Gln1553Arg
XM_011522638.2:c.4823A>G	XP_011520940.2:p.Gln1608Arg
XM_011522639.2:c.4532A>G	XP_011520941.1:p.Gln1511Arg
XM_011522640.2:c.4529A>G	XP_011520942.1:p.Gln1510Arg
XM_017023615.1:c.4604A>G	XP_016879104.1:p.Gln1535Arg
XM_017023616.1:c.4475A>G	XP_016879105.1:p.Gln1492Arg
XM_017023617.1:c.4571A>G	XP_016879106.1:p.Gln1524Arg
XM_017023618.1:c.3317A>G	XP_016879107.1:p.Gln1106Arg
XM_024450413.1:c.4406A>G	XP_024306181.1:p.Gln1469Arg
NM_000548.5:c.4607A>G MANE Select	NP_000539.2:p.Gln1536Arg
NM_001370404.1:c.4475A>G	NP_001357333.1:p.Gln1492Arg
NM_001370405.1:c.4478A>G	NP_001357334.1:p.Gln1493Arg
NM_001077183.3:c.4406A>G	NP_001070651.1:p.Gln1469Arg
NM_001114382.3:c.4538A>G	NP_001107854.1:p.Gln1513Arg
NM_001318827.2:c.4298A>G	NP_001305756.1:p.Gln1433Arg
NM_001318829.2:c.4262A>G	NP_001305758.1:p.Gln1421Arg
NM_001318831.2:c.3875A>G	NP_001305760.1:p.Gln1292Arg
NM_001318832.2:c.4439A>G	NP_001305761.1:p.Gln1480Arg
NM_001363528.2:c.4409A>G	NP_001350457.1:p.Gln1470Arg
NM_021055.3:c.4478A>G	NP_066399.2:p.Gln1493Arg