Canonical Allele Identifier: CA020493

Gene: TSC2

Linked Data

• ClinVar Variation Id: 135388
• ClinVar RCV Id: RCV000122237 ; RCV000706466 ; RCV001022523
• dbSNP Id: rs587778740
• MyVariant Identifiers: chr16:g.2134688G>A (hg19) ; chr16:g.2084687G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084687G>A , CM000678.2:g.2084687G>A	GRCh38
NC_000016.9:g.2134688G>A , CM000678.1:g.2134688G>A	GRCh37
NC_000016.8:g.2074689G>A	NCBI36
NG_005895.1:g.40382G>A , LRG_487:g.40382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2814G>A	ENSP00000455997.2:n.*2814G>A
ENST00000642206.2:c.4312G>A	ENSP00000495146.2:p.Ala1438Thr
ENST00000642365.2:c.4462G>A	ENSP00000495459.2:p.Ala1488Thr
ENST00000644417.2:c.*4845G>A	ENSP00000493912.2:n.*4845G>A
ENST00000646464.2:c.*7214G>A	ENSP00000496610.2:n.*7214G>A
ENST00000219476.9:c.4465G>A MANE Select	ENSP00000219476.3:p.Ala1489Thr
ENST00000350773.9:c.4396G>A	ENSP00000344383.4:p.Ala1466Thr
ENST00000401874.7:c.4264G>A	ENSP00000384468.2:p.Ala1422Thr
ENST00000568454.6:c.4297G>A	ENSP00000454487.1:p.Ala1433Thr
ENST00000569110.2:c.701G>A
ENST00000569930.2:n.2347G>A
ENST00000642365.1:c.3119G>A
ENST00000642561.1:c.4336G>A	ENSP00000495099.1:p.Ala1446Thr
ENST00000642728.1:n.647G>A
ENST00000642797.1:c.4267G>A	ENSP00000493846.1:p.Ala1423Thr
ENST00000642936.1:c.4333G>A	ENSP00000494514.1:p.Ala1445Thr
ENST00000643088.1:c.4264G>A	ENSP00000494747.1:p.Ala1422Thr
ENST00000643177.1:n.479G>A
ENST00000643426.1:n.2113G>A
ENST00000643946.1:c.4396G>A	ENSP00000495927.1:p.Ala1466Thr
ENST00000644043.1:c.4336G>A	ENSP00000496262.1:p.Ala1446Thr
ENST00000644329.1:c.4264G>A	ENSP00000496611.1:p.Ala1422Thr
ENST00000644335.1:c.4267G>A	ENSP00000496317.1:p.Ala1423Thr
ENST00000644399.1:c.4386G>A
ENST00000645024.1:n.2549G>A
ENST00000646388.1:c.4465G>A	ENSP00000495921.1:p.Ala1489Thr
ENST00000646634.1:n.3280G>A
ENST00000646674.1:n.1717G>A
ENST00000647042.1:n.1688G>A
ENST00000647180.1:n.1578G>A
ENST00000219476.7:c.4465G>A	ENSP00000219476.3:p.Ala1489Thr
ENST00000350773.8:c.4396G>A	ENSP00000344383.4:p.Ala1466Thr
ENST00000382538.10:c.4120G>A	ENSP00000371978.6:p.Ala1374Thr
ENST00000401874.6:c.4264G>A	ENSP00000384468.2:p.Ala1422Thr
ENST00000439117.6:c.*3632G>A	ENSP00000406980.2:n.*3632G>A
ENST00000439673.6:c.4156G>A	ENSP00000399232.2:p.Ala1386Thr
ENST00000497886.5:n.2223G>A
ENST00000568454.5:c.4297G>A	ENSP00000454487.1:p.Ala1433Thr
ENST00000569110.1:c.647G>A
ENST00000569930.1:n.1580G>A
NM_000548.3:c.4465G>A , LRG_487t1:c.4465G>A	NP_000539.2:p.Ala1489Thr
NM_001077183.1:c.4264G>A	NP_001070651.1:p.Ala1422Thr
NM_001114382.1:c.4396G>A	NP_001107854.1:p.Ala1466Thr
XM_005255529.3:c.4336G>A	XP_005255586.2:p.Ala1446Thr
XM_005255531.3:c.4267G>A	XP_005255588.2:p.Ala1423Thr
XM_011522636.1:c.4519G>A	XP_011520938.1:p.Ala1507Thr
XM_011522637.1:c.4516G>A	XP_011520939.1:p.Ala1506Thr
XM_011522638.1:c.4408G>A	XP_011520940.1:p.Ala1470Thr
XM_011522639.1:c.4390G>A	XP_011520941.1:p.Ala1464Thr
XM_011522640.1:c.4387G>A	XP_011520942.1:p.Ala1463Thr
XM_011522641.1:c.4156G>A	XP_011520943.1:p.Ala1386Thr
NM_000548.4:c.4465G>A	NP_000539.2:p.Ala1489Thr
NM_001077183.2:c.4264G>A	NP_001070651.1:p.Ala1422Thr
NM_001114382.2:c.4396G>A	NP_001107854.1:p.Ala1466Thr
NM_001318827.1:c.4156G>A	NP_001305756.1:p.Ala1386Thr
NM_001318829.1:c.4120G>A	NP_001305758.1:p.Ala1374Thr
NM_001318831.1:c.3733G>A	NP_001305760.1:p.Ala1245Thr
NM_001318832.1:c.4297G>A	NP_001305761.1:p.Ala1433Thr
NM_001363528.1:c.4267G>A	NP_001350457.1:p.Ala1423Thr
NM_021055.2:c.4336G>A	NP_066399.2:p.Ala1446Thr
XM_005255531.4:c.4267G>A	XP_005255588.2:p.Ala1423Thr
XM_011522636.2:c.4519G>A	XP_011520938.1:p.Ala1507Thr
XM_011522637.2:c.4516G>A	XP_011520939.1:p.Ala1506Thr
XM_011522638.2:c.4681G>A	XP_011520940.2:p.Ala1561Thr
XM_011522639.2:c.4390G>A	XP_011520941.1:p.Ala1464Thr
XM_011522640.2:c.4387G>A	XP_011520942.1:p.Ala1463Thr
XM_017023615.1:c.4462G>A	XP_016879104.1:p.Ala1488Thr
XM_017023616.1:c.4333G>A	XP_016879105.1:p.Ala1445Thr
XM_017023617.1:c.4429G>A	XP_016879106.1:p.Ala1477Thr
XM_017023618.1:c.3175G>A	XP_016879107.1:p.Ala1059Thr
XM_024450413.1:c.4264G>A	XP_024306181.1:p.Ala1422Thr
NM_000548.5:c.4465G>A MANE Select	NP_000539.2:p.Ala1489Thr
NM_001370404.1:c.4333G>A	NP_001357333.1:p.Ala1445Thr
NM_001370405.1:c.4336G>A	NP_001357334.1:p.Ala1446Thr
NM_001077183.3:c.4264G>A	NP_001070651.1:p.Ala1422Thr
NM_001114382.3:c.4396G>A	NP_001107854.1:p.Ala1466Thr
NM_001318827.2:c.4156G>A	NP_001305756.1:p.Ala1386Thr
NM_001318829.2:c.4120G>A	NP_001305758.1:p.Ala1374Thr
NM_001318831.2:c.3733G>A	NP_001305760.1:p.Ala1245Thr
NM_001318832.2:c.4297G>A	NP_001305761.1:p.Ala1433Thr
NM_001363528.2:c.4267G>A	NP_001350457.1:p.Ala1423Thr
NM_021055.3:c.4336G>A	NP_066399.2:p.Ala1446Thr