Canonical Allele Identifier: CA394304824

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135285A>C (hg19) ; chr16:g.2085284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085284A>C , CM000678.2:g.2085284A>C	GRCh38
NC_000016.9:g.2135285A>C , CM000678.1:g.2135285A>C	GRCh37
NC_000016.8:g.2075286A>C	NCBI36
NG_005895.1:g.40979A>C , LRG_487:g.40979A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2973A>C	ENSP00000455997.2:n.*2973A>C
ENST00000642206.2:c.4471A>C	ENSP00000495146.2:p.Thr1491Pro
ENST00000642365.2:c.4621A>C	ENSP00000495459.2:p.Thr1541Pro
ENST00000644417.2:c.*5004A>C	ENSP00000493912.2:n.*5004A>C
ENST00000646464.2:c.*7373A>C	ENSP00000496610.2:n.*7373A>C
ENST00000219476.9:c.4624A>C MANE Select	ENSP00000219476.3:p.Thr1542Pro
ENST00000350773.9:c.4555A>C	ENSP00000344383.4:p.Thr1519Pro
ENST00000401874.7:c.4423A>C	ENSP00000384468.2:p.Thr1475Pro
ENST00000568454.6:c.4456A>C	ENSP00000454487.1:p.Thr1486Pro
ENST00000569110.2:c.847A>C
ENST00000569930.2:n.2506A>C
ENST00000642365.1:c.3278A>C
ENST00000642561.1:c.4495A>C	ENSP00000495099.1:p.Thr1499Pro
ENST00000642728.1:n.806A>C
ENST00000642791.1:n.221A>C
ENST00000642797.1:c.4426A>C	ENSP00000493846.1:p.Thr1476Pro
ENST00000642936.1:c.4492A>C	ENSP00000494514.1:p.Thr1498Pro
ENST00000643088.1:c.4417A>C	ENSP00000494747.1:p.Thr1473Pro
ENST00000643177.1:n.638A>C
ENST00000643426.1:n.2272A>C
ENST00000643946.1:c.4549A>C	ENSP00000495927.1:p.Thr1517Pro
ENST00000644043.1:c.4495A>C	ENSP00000496262.1:p.Thr1499Pro
ENST00000644278.1:n.106A>C
ENST00000644329.1:c.4423A>C	ENSP00000496611.1:p.Thr1475Pro
ENST00000644335.1:c.4420A>C	ENSP00000496317.1:p.Thr1474Pro
ENST00000644399.1:c.4545A>C
ENST00000645024.1:n.2708A>C
ENST00000646388.1:c.4618A>C	ENSP00000495921.1:p.Thr1540Pro
ENST00000646634.1:n.3439A>C
ENST00000646674.1:n.1876A>C
ENST00000647042.1:n.1847A>C
ENST00000647180.1:n.1737A>C
ENST00000219476.7:c.4624A>C	ENSP00000219476.3:p.Thr1542Pro
ENST00000350773.8:c.4555A>C	ENSP00000344383.4:p.Thr1519Pro
ENST00000382538.10:c.4279A>C	ENSP00000371978.6:p.Thr1427Pro
ENST00000401874.6:c.4423A>C	ENSP00000384468.2:p.Thr1475Pro
ENST00000439117.6:c.*3791A>C	ENSP00000406980.2:n.*3791A>C
ENST00000439673.6:c.4315A>C	ENSP00000399232.2:p.Thr1439Pro
ENST00000497886.5:n.2382A>C
ENST00000568454.5:c.4456A>C	ENSP00000454487.1:p.Thr1486Pro
ENST00000569110.1:c.806A>C
ENST00000569930.1:n.1739A>C
NM_000548.3:c.4624A>C , LRG_487t1:c.4624A>C	NP_000539.2:p.Thr1542Pro
NM_001077183.1:c.4423A>C	NP_001070651.1:p.Thr1475Pro
NM_001114382.1:c.4555A>C	NP_001107854.1:p.Thr1519Pro
XM_005255529.3:c.4495A>C	XP_005255586.2:p.Thr1499Pro
XM_005255531.3:c.4426A>C	XP_005255588.2:p.Thr1476Pro
XM_011522636.1:c.4678A>C	XP_011520938.1:p.Thr1560Pro
XM_011522637.1:c.4675A>C	XP_011520939.1:p.Thr1559Pro
XM_011522638.1:c.4567A>C	XP_011520940.1:p.Thr1523Pro
XM_011522639.1:c.4549A>C	XP_011520941.1:p.Thr1517Pro
XM_011522640.1:c.4546A>C	XP_011520942.1:p.Thr1516Pro
XM_011522641.1:c.4315A>C	XP_011520943.1:p.Thr1439Pro
NM_000548.4:c.4624A>C	NP_000539.2:p.Thr1542Pro
NM_001077183.2:c.4423A>C	NP_001070651.1:p.Thr1475Pro
NM_001114382.2:c.4555A>C	NP_001107854.1:p.Thr1519Pro
NM_001318827.1:c.4315A>C	NP_001305756.1:p.Thr1439Pro
NM_001318829.1:c.4279A>C	NP_001305758.1:p.Thr1427Pro
NM_001318831.1:c.3892A>C	NP_001305760.1:p.Thr1298Pro
NM_001318832.1:c.4456A>C	NP_001305761.1:p.Thr1486Pro
NM_001363528.1:c.4426A>C	NP_001350457.1:p.Thr1476Pro
NM_021055.2:c.4495A>C	NP_066399.2:p.Thr1499Pro
XM_005255531.4:c.4426A>C	XP_005255588.2:p.Thr1476Pro
XM_011522636.2:c.4678A>C	XP_011520938.1:p.Thr1560Pro
XM_011522637.2:c.4675A>C	XP_011520939.1:p.Thr1559Pro
XM_011522638.2:c.4840A>C	XP_011520940.2:p.Thr1614Pro
XM_011522639.2:c.4549A>C	XP_011520941.1:p.Thr1517Pro
XM_011522640.2:c.4546A>C	XP_011520942.1:p.Thr1516Pro
XM_017023615.1:c.4621A>C	XP_016879104.1:p.Thr1541Pro
XM_017023616.1:c.4492A>C	XP_016879105.1:p.Thr1498Pro
XM_017023617.1:c.4588A>C	XP_016879106.1:p.Thr1530Pro
XM_017023618.1:c.3334A>C	XP_016879107.1:p.Thr1112Pro
XM_024450413.1:c.4423A>C	XP_024306181.1:p.Thr1475Pro
NM_000548.5:c.4624A>C MANE Select	NP_000539.2:p.Thr1542Pro
NM_001370404.1:c.4492A>C	NP_001357333.1:p.Thr1498Pro
NM_001370405.1:c.4495A>C	NP_001357334.1:p.Thr1499Pro
NM_001077183.3:c.4423A>C	NP_001070651.1:p.Thr1475Pro
NM_001114382.3:c.4555A>C	NP_001107854.1:p.Thr1519Pro
NM_001318827.2:c.4315A>C	NP_001305756.1:p.Thr1439Pro
NM_001318829.2:c.4279A>C	NP_001305758.1:p.Thr1427Pro
NM_001318831.2:c.3892A>C	NP_001305760.1:p.Thr1298Pro
NM_001318832.2:c.4456A>C	NP_001305761.1:p.Thr1486Pro
NM_001363528.2:c.4426A>C	NP_001350457.1:p.Thr1476Pro
NM_021055.3:c.4495A>C	NP_066399.2:p.Thr1499Pro