Canonical Allele Identifier: CA021203

Gene: TSC2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086788G>A , CM000678.2:g.2086788G>A	GRCh38
NC_000016.9:g.2136789G>A , CM000678.1:g.2136789G>A	GRCh37
NC_000016.8:g.2076790G>A	NCBI36
NG_005895.1:g.42483G>A , LRG_487:g.42483G>A
NG_008617.1:g.56433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3255G>A	ENSP00000455997.2:n.*3255G>A
ENST00000642206.2:c.4753G>A	ENSP00000495146.2:p.Asp1585Asn
ENST00000642365.2:c.4903G>A	ENSP00000495459.2:p.Asp1635Asn
ENST00000644417.2:c.*5419G>A	ENSP00000493912.2:n.*5419G>A
ENST00000646464.2:c.*7655G>A	ENSP00000496610.2:n.*7655G>A
ENST00000219476.9:c.4906G>A MANE Select	ENSP00000219476.3:p.Asp1636Asn
ENST00000350773.9:c.4837G>A	ENSP00000344383.4:p.Asp1613Asn
ENST00000401874.7:c.4705G>A	ENSP00000384468.2:p.Asp1569Asn
ENST00000568454.6:c.4738G>A	ENSP00000454487.1:p.Asp1580Asn
ENST00000569110.2:c.1129G>A
ENST00000569930.2:n.2788G>A
ENST00000642365.1:c.3560G>A
ENST00000642561.1:c.4777G>A	ENSP00000495099.1:p.Asp1593Asn
ENST00000642728.1:n.1088G>A
ENST00000642791.1:n.503G>A
ENST00000642797.1:c.4708G>A	ENSP00000493846.1:p.Asp1570Asn
ENST00000642936.1:c.4774G>A	ENSP00000494514.1:p.Asp1592Asn
ENST00000643088.1:c.4699G>A	ENSP00000494747.1:p.Asp1567Asn
ENST00000643177.1:n.920G>A
ENST00000643426.1:n.2554G>A
ENST00000643946.1:c.4831G>A	ENSP00000495927.1:p.Asp1611Asn
ENST00000644043.1:c.4777G>A	ENSP00000496262.1:p.Asp1593Asn
ENST00000644278.1:n.388G>A
ENST00000644329.1:c.4705G>A	ENSP00000496611.1:p.Asp1569Asn
ENST00000644335.1:c.4702G>A	ENSP00000496317.1:p.Asp1568Asn
ENST00000644399.1:c.4827G>A
ENST00000645024.1:n.2990G>A
ENST00000646388.1:c.4900G>A	ENSP00000495921.1:p.Asp1634Asn
ENST00000646557.1:n.67G>A
ENST00000646634.1:n.3721G>A
ENST00000646674.1:n.2158G>A
ENST00000647042.1:n.2129G>A
ENST00000647180.1:n.2019G>A
ENST00000219476.7:c.4906G>A	ENSP00000219476.3:p.Asp1636Asn
ENST00000350773.8:c.4837G>A	ENSP00000344383.4:p.Asp1613Asn
ENST00000382538.10:c.4561G>A	ENSP00000371978.6:p.Asp1521Asn
ENST00000401874.6:c.4705G>A	ENSP00000384468.2:p.Asp1569Asn
ENST00000439117.6:c.*4073G>A	ENSP00000406980.2:n.*4073G>A
ENST00000439673.6:c.4597G>A	ENSP00000399232.2:p.Asp1533Asn
ENST00000497886.5:n.2629G>A
ENST00000568454.5:c.4738G>A	ENSP00000454487.1:p.Asp1580Asn
ENST00000569110.1:c.1088G>A
ENST00000569930.1:n.2021G>A
NM_000548.3:c.4906G>A , LRG_487t1:c.4906G>A	NP_000539.2:p.Asp1636Asn
NM_001077183.1:c.4705G>A	NP_001070651.1:p.Asp1569Asn
NM_001114382.1:c.4837G>A	NP_001107854.1:p.Asp1613Asn
XM_005255529.3:c.4777G>A	XP_005255586.2:p.Asp1593Asn
XM_005255531.3:c.4708G>A	XP_005255588.2:p.Asp1570Asn
XM_011522636.1:c.4960G>A	XP_011520938.1:p.Asp1654Asn
XM_011522637.1:c.4957G>A	XP_011520939.1:p.Asp1653Asn
XM_011522638.1:c.4849G>A	XP_011520940.1:p.Asp1617Asn
XM_011522639.1:c.4831G>A	XP_011520941.1:p.Asp1611Asn
XM_011522640.1:c.4828G>A	XP_011520942.1:p.Asp1610Asn
XM_011522641.1:c.4597G>A	XP_011520943.1:p.Asp1533Asn
NM_000548.4:c.4906G>A	NP_000539.2:p.Asp1636Asn
NM_001077183.2:c.4705G>A	NP_001070651.1:p.Asp1569Asn
NM_001114382.2:c.4837G>A	NP_001107854.1:p.Asp1613Asn
NM_001318827.1:c.4597G>A	NP_001305756.1:p.Asp1533Asn
NM_001318829.1:c.4561G>A	NP_001305758.1:p.Asp1521Asn
NM_001318831.1:c.4174G>A	NP_001305760.1:p.Asp1392Asn
NM_001318832.1:c.4738G>A	NP_001305761.1:p.Asp1580Asn
NM_001363528.1:c.4708G>A	NP_001350457.1:p.Asp1570Asn
NM_021055.2:c.4777G>A	NP_066399.2:p.Asp1593Asn
XM_005255531.4:c.4708G>A	XP_005255588.2:p.Asp1570Asn
XM_011522636.2:c.4960G>A	XP_011520938.1:p.Asp1654Asn
XM_011522637.2:c.4957G>A	XP_011520939.1:p.Asp1653Asn
XM_011522638.2:c.5122G>A	XP_011520940.2:p.Asp1708Asn
XM_011522639.2:c.4831G>A	XP_011520941.1:p.Asp1611Asn
XM_011522640.2:c.4828G>A	XP_011520942.1:p.Asp1610Asn
XM_017023615.1:c.4903G>A	XP_016879104.1:p.Asp1635Asn
XM_017023616.1:c.4774G>A	XP_016879105.1:p.Asp1592Asn
XM_017023617.1:c.4870G>A	XP_016879106.1:p.Asp1624Asn
XM_017023618.1:c.3616G>A	XP_016879107.1:p.Asp1206Asn
XM_024450413.1:c.4705G>A	XP_024306181.1:p.Asp1569Asn
NM_000548.5:c.4906G>A MANE Select	NP_000539.2:p.Asp1636Asn
NM_001370404.1:c.4774G>A	NP_001357333.1:p.Asp1592Asn
NM_001370405.1:c.4777G>A	NP_001357334.1:p.Asp1593Asn
NM_001077183.3:c.4705G>A	NP_001070651.1:p.Asp1569Asn
NM_001114382.3:c.4837G>A	NP_001107854.1:p.Asp1613Asn
NM_001318827.2:c.4597G>A	NP_001305756.1:p.Asp1533Asn
NM_001318829.2:c.4561G>A	NP_001305758.1:p.Asp1521Asn
NM_001318831.2:c.4174G>A	NP_001305760.1:p.Asp1392Asn
NM_001318832.2:c.4738G>A	NP_001305761.1:p.Asp1580Asn
NM_001363528.2:c.4708G>A	NP_001350457.1:p.Asp1570Asn
NM_021055.3:c.4777G>A	NP_066399.2:p.Asp1593Asn