Canonical Allele Identifier: CA394304339

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135236G>T (hg19) ; chr16:g.2085235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085235G>T , CM000678.2:g.2085235G>T	GRCh38
NC_000016.9:g.2135236G>T , CM000678.1:g.2135236G>T	GRCh37
NC_000016.8:g.2075237G>T	NCBI36
NG_005895.1:g.40930G>T , LRG_487:g.40930G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2924G>T	ENSP00000455997.2:n.*2924G>T
ENST00000642206.2:c.4422G>T	ENSP00000495146.2:p.Gln1474His
ENST00000642365.2:c.4572G>T	ENSP00000495459.2:p.Gln1524His
ENST00000644417.2:c.*4955G>T	ENSP00000493912.2:n.*4955G>T
ENST00000646464.2:c.*7324G>T	ENSP00000496610.2:n.*7324G>T
ENST00000219476.9:c.4575G>T MANE Select	ENSP00000219476.3:p.Gln1525His
ENST00000350773.9:c.4506G>T	ENSP00000344383.4:p.Gln1502His
ENST00000401874.7:c.4374G>T	ENSP00000384468.2:p.Gln1458His
ENST00000568454.6:c.4407G>T	ENSP00000454487.1:p.Gln1469His
ENST00000569110.2:c.798G>T
ENST00000569930.2:n.2457G>T
ENST00000642365.1:c.3229G>T
ENST00000642561.1:c.4446G>T	ENSP00000495099.1:p.Gln1482His
ENST00000642728.1:n.757G>T
ENST00000642791.1:n.172G>T
ENST00000642797.1:c.4377G>T	ENSP00000493846.1:p.Gln1459His
ENST00000642936.1:c.4443G>T	ENSP00000494514.1:p.Gln1481His
ENST00000643088.1:c.4369-1G>T	ENSP00000494747.1:n.4369-1G>T
ENST00000643177.1:n.589G>T
ENST00000643426.1:n.2223G>T
ENST00000643946.1:c.4501-1G>T	ENSP00000495927.1:n.4501-1G>T
ENST00000644043.1:c.4446G>T	ENSP00000496262.1:p.Gln1482His
ENST00000644278.1:n.57G>T
ENST00000644329.1:c.4374G>T	ENSP00000496611.1:p.Gln1458His
ENST00000644335.1:c.4372-1G>T	ENSP00000496317.1:n.4372-1G>T
ENST00000644399.1:c.4496G>T
ENST00000645024.1:n.2659G>T
ENST00000646388.1:c.4570-1G>T	ENSP00000495921.1:n.4570-1G>T
ENST00000646634.1:n.3390G>T
ENST00000646674.1:n.1827G>T
ENST00000647042.1:n.1798G>T
ENST00000647180.1:n.1688G>T
ENST00000219476.7:c.4575G>T	ENSP00000219476.3:p.Gln1525His
ENST00000350773.8:c.4506G>T	ENSP00000344383.4:p.Gln1502His
ENST00000382538.10:c.4230G>T	ENSP00000371978.6:p.Gln1410His
ENST00000401874.6:c.4374G>T	ENSP00000384468.2:p.Gln1458His
ENST00000439117.6:c.*3742G>T	ENSP00000406980.2:n.*3742G>T
ENST00000439673.6:c.4266G>T	ENSP00000399232.2:p.Gln1422His
ENST00000497886.5:n.2333G>T
ENST00000568454.5:c.4407G>T	ENSP00000454487.1:p.Gln1469His
ENST00000569110.1:c.757G>T
ENST00000569930.1:n.1690G>T
NM_000548.3:c.4575G>T , LRG_487t1:c.4575G>T	NP_000539.2:p.Gln1525His
NM_001077183.1:c.4374G>T	NP_001070651.1:p.Gln1458His
NM_001114382.1:c.4506G>T	NP_001107854.1:p.Gln1502His
XM_005255529.3:c.4446G>T	XP_005255586.2:p.Gln1482His
XM_005255531.3:c.4377G>T	XP_005255588.2:p.Gln1459His
XM_011522636.1:c.4629G>T	XP_011520938.1:p.Gln1543His
XM_011522637.1:c.4626G>T	XP_011520939.1:p.Gln1542His
XM_011522638.1:c.4518G>T	XP_011520940.1:p.Gln1506His
XM_011522639.1:c.4500G>T	XP_011520941.1:p.Gln1500His
XM_011522640.1:c.4497G>T	XP_011520942.1:p.Gln1499His
XM_011522641.1:c.4266G>T	XP_011520943.1:p.Gln1422His
NM_000548.4:c.4575G>T	NP_000539.2:p.Gln1525His
NM_001077183.2:c.4374G>T	NP_001070651.1:p.Gln1458His
NM_001114382.2:c.4506G>T	NP_001107854.1:p.Gln1502His
NM_001318827.1:c.4266G>T	NP_001305756.1:p.Gln1422His
NM_001318829.1:c.4230G>T	NP_001305758.1:p.Gln1410His
NM_001318831.1:c.3843G>T	NP_001305760.1:p.Gln1281His
NM_001318832.1:c.4407G>T	NP_001305761.1:p.Gln1469His
NM_001363528.1:c.4377G>T	NP_001350457.1:p.Gln1459His
NM_021055.2:c.4446G>T	NP_066399.2:p.Gln1482His
XM_005255531.4:c.4377G>T	XP_005255588.2:p.Gln1459His
XM_011522636.2:c.4629G>T	XP_011520938.1:p.Gln1543His
XM_011522637.2:c.4626G>T	XP_011520939.1:p.Gln1542His
XM_011522638.2:c.4791G>T	XP_011520940.2:p.Gln1597His
XM_011522639.2:c.4500G>T	XP_011520941.1:p.Gln1500His
XM_011522640.2:c.4497G>T	XP_011520942.1:p.Gln1499His
XM_017023615.1:c.4572G>T	XP_016879104.1:p.Gln1524His
XM_017023616.1:c.4443G>T	XP_016879105.1:p.Gln1481His
XM_017023617.1:c.4539G>T	XP_016879106.1:p.Gln1513His
XM_017023618.1:c.3285G>T	XP_016879107.1:p.Gln1095His
XM_024450413.1:c.4374G>T	XP_024306181.1:p.Gln1458His
NM_000548.5:c.4575G>T MANE Select	NP_000539.2:p.Gln1525His
NM_001370404.1:c.4443G>T	NP_001357333.1:p.Gln1481His
NM_001370405.1:c.4446G>T	NP_001357334.1:p.Gln1482His
NM_001077183.3:c.4374G>T	NP_001070651.1:p.Gln1458His
NM_001114382.3:c.4506G>T	NP_001107854.1:p.Gln1502His
NM_001318827.2:c.4266G>T	NP_001305756.1:p.Gln1422His
NM_001318829.2:c.4230G>T	NP_001305758.1:p.Gln1410His
NM_001318831.2:c.3843G>T	NP_001305760.1:p.Gln1281His
NM_001318832.2:c.4407G>T	NP_001305761.1:p.Gln1469His
NM_001363528.2:c.4377G>T	NP_001350457.1:p.Gln1459His
NM_021055.3:c.4446G>T	NP_066399.2:p.Gln1482His