Canonical Allele Identifier: CA394314230

Gene: TSC2

Linked Data

• dbSNP Id: rs1596460327
• MyVariant Identifiers: chr16:g.2138264A>T (hg19) ; chr16:g.2088263A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088263A>T , CM000678.2:g.2088263A>T	GRCh38
NC_000016.9:g.2138264A>T , CM000678.1:g.2138264A>T	GRCh37
NC_000016.8:g.2078265A>T	NCBI36
NG_005895.1:g.43958A>T , LRG_487:g.43958A>T
NG_008617.1:g.54958T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3546A>T	ENSP00000455997.2:n.*3546A>T
ENST00000642206.2:c.5044A>T	ENSP00000495146.2:p.Thr1682Ser
ENST00000642365.2:c.5194A>T	ENSP00000495459.2:p.Thr1732Ser
ENST00000644417.2:c.*5710A>T	ENSP00000493912.2:n.*5710A>T
ENST00000646464.2:c.*7946A>T	ENSP00000496610.2:n.*7946A>T
ENST00000219476.9:c.5197A>T MANE Select	ENSP00000219476.3:p.Thr1733Ser
ENST00000350773.9:c.5128A>T	ENSP00000344383.4:p.Thr1710Ser
ENST00000401874.7:c.4996A>T	ENSP00000384468.2:p.Thr1666Ser
ENST00000568454.6:c.5029A>T	ENSP00000454487.1:p.Thr1677Ser
ENST00000569110.2:c.1420A>T
ENST00000569930.2:n.3079A>T
ENST00000642365.1:c.3851A>T
ENST00000642561.1:c.5056A>T	ENSP00000495099.1:p.Thr1686Ser
ENST00000642791.1:n.794A>T
ENST00000642797.1:c.4999A>T	ENSP00000493846.1:p.Thr1667Ser
ENST00000642936.1:c.5065A>T	ENSP00000494514.1:p.Thr1689Ser
ENST00000643088.1:c.4990A>T	ENSP00000494747.1:p.Thr1664Ser
ENST00000643426.1:n.2845A>T
ENST00000643946.1:c.5122A>T	ENSP00000495927.1:p.Thr1708Ser
ENST00000644043.1:c.5068A>T	ENSP00000496262.1:p.Thr1690Ser
ENST00000644329.1:c.5083A>T	ENSP00000496611.1:p.Thr1695Ser
ENST00000644335.1:c.4993A>T	ENSP00000496317.1:p.Thr1665Ser
ENST00000644399.1:c.5118A>T
ENST00000645024.1:n.3281A>T
ENST00000646388.1:c.5191A>T	ENSP00000495921.1:p.Thr1731Ser
ENST00000646634.1:n.4012A>T
ENST00000646674.1:n.2449A>T
ENST00000647042.1:n.2420A>T
ENST00000647180.1:n.2310A>T
ENST00000219476.7:c.5197A>T	ENSP00000219476.3:p.Thr1733Ser
ENST00000350773.8:c.5128A>T	ENSP00000344383.4:p.Thr1710Ser
ENST00000382538.10:c.4852A>T	ENSP00000371978.6:p.Thr1618Ser
ENST00000401874.6:c.4996A>T	ENSP00000384468.2:p.Thr1666Ser
ENST00000439117.6:c.*4364A>T	ENSP00000406980.2:n.*4364A>T
ENST00000439673.6:c.4888A>T	ENSP00000399232.2:p.Thr1630Ser
ENST00000497886.5:n.2920A>T
ENST00000568454.5:c.5029A>T	ENSP00000454487.1:p.Thr1677Ser
ENST00000569110.1:c.1379A>T
ENST00000569930.1:n.2312A>T
NM_000548.3:c.5197A>T , LRG_487t1:c.5197A>T	NP_000539.2:p.Thr1733Ser
NM_001077183.1:c.4996A>T	NP_001070651.1:p.Thr1666Ser
NM_001114382.1:c.5128A>T	NP_001107854.1:p.Thr1710Ser
XM_005255529.3:c.5068A>T	XP_005255586.2:p.Thr1690Ser
XM_005255531.3:c.4999A>T	XP_005255588.2:p.Thr1667Ser
XM_011522636.1:c.5251A>T	XP_011520938.1:p.Thr1751Ser
XM_011522637.1:c.5248A>T	XP_011520939.1:p.Thr1750Ser
XM_011522638.1:c.5140A>T	XP_011520940.1:p.Thr1714Ser
XM_011522639.1:c.5122A>T	XP_011520941.1:p.Thr1708Ser
XM_011522640.1:c.5119A>T	XP_011520942.1:p.Thr1707Ser
XM_011522641.1:c.4888A>T	XP_011520943.1:p.Thr1630Ser
NM_000548.4:c.5197A>T	NP_000539.2:p.Thr1733Ser
NM_001077183.2:c.4996A>T	NP_001070651.1:p.Thr1666Ser
NM_001114382.2:c.5128A>T	NP_001107854.1:p.Thr1710Ser
NM_001318827.1:c.4888A>T	NP_001305756.1:p.Thr1630Ser
NM_001318829.1:c.4852A>T	NP_001305758.1:p.Thr1618Ser
NM_001318831.1:c.4465A>T	NP_001305760.1:p.Thr1489Ser
NM_001318832.1:c.5029A>T	NP_001305761.1:p.Thr1677Ser
NM_001363528.1:c.4999A>T	NP_001350457.1:p.Thr1667Ser
NM_021055.2:c.5068A>T	NP_066399.2:p.Thr1690Ser
XM_005255531.4:c.4999A>T	XP_005255588.2:p.Thr1667Ser
XM_011522636.2:c.5251A>T	XP_011520938.1:p.Thr1751Ser
XM_011522637.2:c.5248A>T	XP_011520939.1:p.Thr1750Ser
XM_011522638.2:c.5413A>T	XP_011520940.2:p.Thr1805Ser
XM_011522639.2:c.5122A>T	XP_011520941.1:p.Thr1708Ser
XM_011522640.2:c.5119A>T	XP_011520942.1:p.Thr1707Ser
XM_017023615.1:c.5194A>T	XP_016879104.1:p.Thr1732Ser
XM_017023616.1:c.5065A>T	XP_016879105.1:p.Thr1689Ser
XM_017023617.1:c.5161A>T	XP_016879106.1:p.Thr1721Ser
XM_017023618.1:c.3907A>T	XP_016879107.1:p.Thr1303Ser
XM_024450413.1:c.5083A>T	XP_024306181.1:p.Thr1695Ser
NM_000548.5:c.5197A>T MANE Select	NP_000539.2:p.Thr1733Ser
NM_001370404.1:c.5065A>T	NP_001357333.1:p.Thr1689Ser
NM_001370405.1:c.5056A>T	NP_001357334.1:p.Thr1686Ser
NM_001077183.3:c.4996A>T	NP_001070651.1:p.Thr1666Ser
NM_001114382.3:c.5128A>T	NP_001107854.1:p.Thr1710Ser
NM_001318827.2:c.4888A>T	NP_001305756.1:p.Thr1630Ser
NM_001318829.2:c.4852A>T	NP_001305758.1:p.Thr1618Ser
NM_001318831.2:c.4465A>T	NP_001305760.1:p.Thr1489Ser
NM_001318832.2:c.5029A>T	NP_001305761.1:p.Thr1677Ser
NM_001363528.2:c.4999A>T	NP_001350457.1:p.Thr1667Ser
NM_021055.3:c.5068A>T	NP_066399.2:p.Thr1690Ser