Canonical Allele Identifier: CA394304759

Gene: TSC2

Linked Data

• gnomAD v4: 16-2085278-T-G
• MyVariant Identifiers: chr16:g.2135279T>G (hg19) ; chr16:g.2085278T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085278T>G , CM000678.2:g.2085278T>G	GRCh38
NC_000016.9:g.2135279T>G , CM000678.1:g.2135279T>G	GRCh37
NC_000016.8:g.2075280T>G	NCBI36
NG_005895.1:g.40973T>G , LRG_487:g.40973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2967T>G	ENSP00000455997.2:n.*2967T>G
ENST00000642206.2:c.4465T>G	ENSP00000495146.2:p.Tyr1489Asp
ENST00000642365.2:c.4615T>G	ENSP00000495459.2:p.Tyr1539Asp
ENST00000644417.2:c.*4998T>G	ENSP00000493912.2:n.*4998T>G
ENST00000646464.2:c.*7367T>G	ENSP00000496610.2:n.*7367T>G
ENST00000219476.9:c.4618T>G MANE Select	ENSP00000219476.3:p.Tyr1540Asp
ENST00000350773.9:c.4549T>G	ENSP00000344383.4:p.Tyr1517Asp
ENST00000401874.7:c.4417T>G	ENSP00000384468.2:p.Tyr1473Asp
ENST00000568454.6:c.4450T>G	ENSP00000454487.1:p.Tyr1484Asp
ENST00000569110.2:c.841T>G
ENST00000569930.2:n.2500T>G
ENST00000642365.1:c.3272T>G
ENST00000642561.1:c.4489T>G	ENSP00000495099.1:p.Tyr1497Asp
ENST00000642728.1:n.800T>G
ENST00000642791.1:n.215T>G
ENST00000642797.1:c.4420T>G	ENSP00000493846.1:p.Tyr1474Asp
ENST00000642936.1:c.4486T>G	ENSP00000494514.1:p.Tyr1496Asp
ENST00000643088.1:c.4411T>G	ENSP00000494747.1:p.Tyr1471Asp
ENST00000643177.1:n.632T>G
ENST00000643426.1:n.2266T>G
ENST00000643946.1:c.4543T>G	ENSP00000495927.1:p.Tyr1515Asp
ENST00000644043.1:c.4489T>G	ENSP00000496262.1:p.Tyr1497Asp
ENST00000644278.1:n.100T>G
ENST00000644329.1:c.4417T>G	ENSP00000496611.1:p.Tyr1473Asp
ENST00000644335.1:c.4414T>G	ENSP00000496317.1:p.Tyr1472Asp
ENST00000644399.1:c.4539T>G
ENST00000645024.1:n.2702T>G
ENST00000646388.1:c.4612T>G	ENSP00000495921.1:p.Tyr1538Asp
ENST00000646634.1:n.3433T>G
ENST00000646674.1:n.1870T>G
ENST00000647042.1:n.1841T>G
ENST00000647180.1:n.1731T>G
ENST00000219476.7:c.4618T>G	ENSP00000219476.3:p.Tyr1540Asp
ENST00000350773.8:c.4549T>G	ENSP00000344383.4:p.Tyr1517Asp
ENST00000382538.10:c.4273T>G	ENSP00000371978.6:p.Tyr1425Asp
ENST00000401874.6:c.4417T>G	ENSP00000384468.2:p.Tyr1473Asp
ENST00000439117.6:c.*3785T>G	ENSP00000406980.2:n.*3785T>G
ENST00000439673.6:c.4309T>G	ENSP00000399232.2:p.Tyr1437Asp
ENST00000497886.5:n.2376T>G
ENST00000568454.5:c.4450T>G	ENSP00000454487.1:p.Tyr1484Asp
ENST00000569110.1:c.800T>G
ENST00000569930.1:n.1733T>G
NM_000548.3:c.4618T>G , LRG_487t1:c.4618T>G	NP_000539.2:p.Tyr1540Asp
NM_001077183.1:c.4417T>G	NP_001070651.1:p.Tyr1473Asp
NM_001114382.1:c.4549T>G	NP_001107854.1:p.Tyr1517Asp
XM_005255529.3:c.4489T>G	XP_005255586.2:p.Tyr1497Asp
XM_005255531.3:c.4420T>G	XP_005255588.2:p.Tyr1474Asp
XM_011522636.1:c.4672T>G	XP_011520938.1:p.Tyr1558Asp
XM_011522637.1:c.4669T>G	XP_011520939.1:p.Tyr1557Asp
XM_011522638.1:c.4561T>G	XP_011520940.1:p.Tyr1521Asp
XM_011522639.1:c.4543T>G	XP_011520941.1:p.Tyr1515Asp
XM_011522640.1:c.4540T>G	XP_011520942.1:p.Tyr1514Asp
XM_011522641.1:c.4309T>G	XP_011520943.1:p.Tyr1437Asp
NM_000548.4:c.4618T>G	NP_000539.2:p.Tyr1540Asp
NM_001077183.2:c.4417T>G	NP_001070651.1:p.Tyr1473Asp
NM_001114382.2:c.4549T>G	NP_001107854.1:p.Tyr1517Asp
NM_001318827.1:c.4309T>G	NP_001305756.1:p.Tyr1437Asp
NM_001318829.1:c.4273T>G	NP_001305758.1:p.Tyr1425Asp
NM_001318831.1:c.3886T>G	NP_001305760.1:p.Tyr1296Asp
NM_001318832.1:c.4450T>G	NP_001305761.1:p.Tyr1484Asp
NM_001363528.1:c.4420T>G	NP_001350457.1:p.Tyr1474Asp
NM_021055.2:c.4489T>G	NP_066399.2:p.Tyr1497Asp
XM_005255531.4:c.4420T>G	XP_005255588.2:p.Tyr1474Asp
XM_011522636.2:c.4672T>G	XP_011520938.1:p.Tyr1558Asp
XM_011522637.2:c.4669T>G	XP_011520939.1:p.Tyr1557Asp
XM_011522638.2:c.4834T>G	XP_011520940.2:p.Tyr1612Asp
XM_011522639.2:c.4543T>G	XP_011520941.1:p.Tyr1515Asp
XM_011522640.2:c.4540T>G	XP_011520942.1:p.Tyr1514Asp
XM_017023615.1:c.4615T>G	XP_016879104.1:p.Tyr1539Asp
XM_017023616.1:c.4486T>G	XP_016879105.1:p.Tyr1496Asp
XM_017023617.1:c.4582T>G	XP_016879106.1:p.Tyr1528Asp
XM_017023618.1:c.3328T>G	XP_016879107.1:p.Tyr1110Asp
XM_024450413.1:c.4417T>G	XP_024306181.1:p.Tyr1473Asp
NM_000548.5:c.4618T>G MANE Select	NP_000539.2:p.Tyr1540Asp
NM_001370404.1:c.4486T>G	NP_001357333.1:p.Tyr1496Asp
NM_001370405.1:c.4489T>G	NP_001357334.1:p.Tyr1497Asp
NM_001077183.3:c.4417T>G	NP_001070651.1:p.Tyr1473Asp
NM_001114382.3:c.4549T>G	NP_001107854.1:p.Tyr1517Asp
NM_001318827.2:c.4309T>G	NP_001305756.1:p.Tyr1437Asp
NM_001318829.2:c.4273T>G	NP_001305758.1:p.Tyr1425Asp
NM_001318831.2:c.3886T>G	NP_001305760.1:p.Tyr1296Asp
NM_001318832.2:c.4450T>G	NP_001305761.1:p.Tyr1484Asp
NM_001363528.2:c.4420T>G	NP_001350457.1:p.Tyr1474Asp
NM_021055.3:c.4489T>G	NP_066399.2:p.Tyr1497Asp