Canonical Allele Identifier: CA394311454

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1744965
• ClinVar RCV Id: RCV002335678
• MyVariant Identifiers: chr16:g.2137917C>A (hg19) ; chr16:g.2087916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087916C>A , CM000678.2:g.2087916C>A	GRCh38
NC_000016.9:g.2137917C>A , CM000678.1:g.2137917C>A	GRCh37
NC_000016.8:g.2077918C>A	NCBI36
NG_005895.1:g.43611C>A , LRG_487:g.43611C>A
NG_008617.1:g.55305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3392C>A	ENSP00000455997.2:n.*3392C>A
ENST00000642206.2:c.4890C>A	ENSP00000495146.2:p.Asn1630Lys
ENST00000642365.2:c.5040C>A	ENSP00000495459.2:p.Asn1680Lys
ENST00000644417.2:c.*5556C>A	ENSP00000493912.2:n.*5556C>A
ENST00000646464.2:c.*7792C>A	ENSP00000496610.2:n.*7792C>A
ENST00000219476.9:c.5043C>A MANE Select	ENSP00000219476.3:p.Asn1681Lys
ENST00000350773.9:c.4974C>A	ENSP00000344383.4:p.Asn1658Lys
ENST00000401874.7:c.4842C>A	ENSP00000384468.2:p.Asn1614Lys
ENST00000568454.6:c.4875C>A	ENSP00000454487.1:p.Asn1625Lys
ENST00000569110.2:c.1266C>A
ENST00000569930.2:n.2925C>A
ENST00000642365.1:c.3697C>A
ENST00000642561.1:c.4914C>A	ENSP00000495099.1:p.Asn1638Lys
ENST00000642791.1:n.640C>A
ENST00000642797.1:c.4845C>A	ENSP00000493846.1:p.Asn1615Lys
ENST00000642936.1:c.4911C>A	ENSP00000494514.1:p.Asn1637Lys
ENST00000643088.1:c.4836C>A	ENSP00000494747.1:p.Asn1612Lys
ENST00000643177.1:n.1057C>A
ENST00000643426.1:n.2691C>A
ENST00000643946.1:c.4968C>A	ENSP00000495927.1:p.Asn1656Lys
ENST00000644043.1:c.4914C>A	ENSP00000496262.1:p.Asn1638Lys
ENST00000644278.1:n.525C>A
ENST00000644329.1:c.4842C>A	ENSP00000496611.1:p.Asn1614Lys
ENST00000644335.1:c.4839C>A	ENSP00000496317.1:p.Asn1613Lys
ENST00000644399.1:c.4964C>A
ENST00000645024.1:n.3127C>A
ENST00000646388.1:c.5037C>A	ENSP00000495921.1:p.Asn1679Lys
ENST00000646634.1:n.3858C>A
ENST00000646674.1:n.2295C>A
ENST00000647042.1:n.2266C>A
ENST00000647180.1:n.2156C>A
ENST00000219476.7:c.5043C>A	ENSP00000219476.3:p.Asn1681Lys
ENST00000350773.8:c.4974C>A	ENSP00000344383.4:p.Asn1658Lys
ENST00000382538.10:c.4698C>A	ENSP00000371978.6:p.Asn1566Lys
ENST00000401874.6:c.4842C>A	ENSP00000384468.2:p.Asn1614Lys
ENST00000439117.6:c.*4210C>A	ENSP00000406980.2:n.*4210C>A
ENST00000439673.6:c.4734C>A	ENSP00000399232.2:p.Asn1578Lys
ENST00000497886.5:n.2766C>A
ENST00000568454.5:c.4875C>A	ENSP00000454487.1:p.Asn1625Lys
ENST00000569110.1:c.1225C>A
ENST00000569930.1:n.2158C>A
NM_000548.3:c.5043C>A , LRG_487t1:c.5043C>A	NP_000539.2:p.Asn1681Lys
NM_001077183.1:c.4842C>A	NP_001070651.1:p.Asn1614Lys
NM_001114382.1:c.4974C>A	NP_001107854.1:p.Asn1658Lys
XM_005255529.3:c.4914C>A	XP_005255586.2:p.Asn1638Lys
XM_005255531.3:c.4845C>A	XP_005255588.2:p.Asn1615Lys
XM_011522636.1:c.5097C>A	XP_011520938.1:p.Asn1699Lys
XM_011522637.1:c.5094C>A	XP_011520939.1:p.Asn1698Lys
XM_011522638.1:c.4986C>A	XP_011520940.1:p.Asn1662Lys
XM_011522639.1:c.4968C>A	XP_011520941.1:p.Asn1656Lys
XM_011522640.1:c.4965C>A	XP_011520942.1:p.Asn1655Lys
XM_011522641.1:c.4734C>A	XP_011520943.1:p.Asn1578Lys
NM_000548.4:c.5043C>A	NP_000539.2:p.Asn1681Lys
NM_001077183.2:c.4842C>A	NP_001070651.1:p.Asn1614Lys
NM_001114382.2:c.4974C>A	NP_001107854.1:p.Asn1658Lys
NM_001318827.1:c.4734C>A	NP_001305756.1:p.Asn1578Lys
NM_001318829.1:c.4698C>A	NP_001305758.1:p.Asn1566Lys
NM_001318831.1:c.4311C>A	NP_001305760.1:p.Asn1437Lys
NM_001318832.1:c.4875C>A	NP_001305761.1:p.Asn1625Lys
NM_001363528.1:c.4845C>A	NP_001350457.1:p.Asn1615Lys
NM_021055.2:c.4914C>A	NP_066399.2:p.Asn1638Lys
XM_005255531.4:c.4845C>A	XP_005255588.2:p.Asn1615Lys
XM_011522636.2:c.5097C>A	XP_011520938.1:p.Asn1699Lys
XM_011522637.2:c.5094C>A	XP_011520939.1:p.Asn1698Lys
XM_011522638.2:c.5259C>A	XP_011520940.2:p.Asn1753Lys
XM_011522639.2:c.4968C>A	XP_011520941.1:p.Asn1656Lys
XM_011522640.2:c.4965C>A	XP_011520942.1:p.Asn1655Lys
XM_017023615.1:c.5040C>A	XP_016879104.1:p.Asn1680Lys
XM_017023616.1:c.4911C>A	XP_016879105.1:p.Asn1637Lys
XM_017023617.1:c.5007C>A	XP_016879106.1:p.Asn1669Lys
XM_017023618.1:c.3753C>A	XP_016879107.1:p.Asn1251Lys
XM_024450413.1:c.4842C>A	XP_024306181.1:p.Asn1614Lys
NM_000548.5:c.5043C>A MANE Select	NP_000539.2:p.Asn1681Lys
NM_001370404.1:c.4911C>A	NP_001357333.1:p.Asn1637Lys
NM_001370405.1:c.4914C>A	NP_001357334.1:p.Asn1638Lys
NM_001077183.3:c.4842C>A	NP_001070651.1:p.Asn1614Lys
NM_001114382.3:c.4974C>A	NP_001107854.1:p.Asn1658Lys
NM_001318827.2:c.4734C>A	NP_001305756.1:p.Asn1578Lys
NM_001318829.2:c.4698C>A	NP_001305758.1:p.Asn1566Lys
NM_001318831.2:c.4311C>A	NP_001305760.1:p.Asn1437Lys
NM_001318832.2:c.4875C>A	NP_001305761.1:p.Asn1625Lys
NM_001363528.2:c.4845C>A	NP_001350457.1:p.Asn1615Lys
NM_021055.3:c.4914C>A	NP_066399.2:p.Asn1638Lys