Canonical Allele Identifier: CA394314426

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138284G>T (hg19) ; chr16:g.2088283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088283G>T , CM000678.2:g.2088283G>T	GRCh38
NC_000016.9:g.2138284G>T , CM000678.1:g.2138284G>T	GRCh37
NC_000016.8:g.2078285G>T	NCBI36
NG_005895.1:g.43978G>T , LRG_487:g.43978G>T
NG_008617.1:g.54938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3566G>T	ENSP00000455997.2:n.*3566G>T
ENST00000642206.2:c.5064G>T	ENSP00000495146.2:p.Lys1688Asn
ENST00000642365.2:c.5214G>T	ENSP00000495459.2:p.Lys1738Asn
ENST00000644417.2:c.*5730G>T	ENSP00000493912.2:n.*5730G>T
ENST00000646464.2:c.*7966G>T	ENSP00000496610.2:n.*7966G>T
ENST00000219476.9:c.5217G>T MANE Select	ENSP00000219476.3:p.Lys1739Asn
ENST00000350773.9:c.5148G>T	ENSP00000344383.4:p.Lys1716Asn
ENST00000401874.7:c.5016G>T	ENSP00000384468.2:p.Lys1672Asn
ENST00000568454.6:c.5049G>T	ENSP00000454487.1:p.Lys1683Asn
ENST00000569110.2:c.1440G>T
ENST00000569930.2:n.3099G>T
ENST00000642365.1:c.3871G>T
ENST00000642561.1:c.5076G>T	ENSP00000495099.1:p.Lys1692Asn
ENST00000642791.1:n.814G>T
ENST00000642797.1:c.5019G>T	ENSP00000493846.1:p.Lys1673Asn
ENST00000642936.1:c.5085G>T	ENSP00000494514.1:p.Lys1695Asn
ENST00000643088.1:c.5010G>T	ENSP00000494747.1:p.Lys1670Asn
ENST00000643426.1:n.2865G>T
ENST00000643946.1:c.5142G>T	ENSP00000495927.1:p.Lys1714Asn
ENST00000644043.1:c.5088G>T	ENSP00000496262.1:p.Lys1696Asn
ENST00000644329.1:c.5103G>T	ENSP00000496611.1:p.Lys1701Asn
ENST00000644335.1:c.5013G>T	ENSP00000496317.1:p.Lys1671Asn
ENST00000644399.1:c.5138G>T
ENST00000645024.1:n.3301G>T
ENST00000646388.1:c.5211G>T	ENSP00000495921.1:p.Lys1737Asn
ENST00000646634.1:n.4032G>T
ENST00000646674.1:n.2469G>T
ENST00000647042.1:n.2440G>T
ENST00000647180.1:n.2330G>T
ENST00000219476.7:c.5217G>T	ENSP00000219476.3:p.Lys1739Asn
ENST00000350773.8:c.5148G>T	ENSP00000344383.4:p.Lys1716Asn
ENST00000382538.10:c.4872G>T	ENSP00000371978.6:p.Lys1624Asn
ENST00000401874.6:c.5016G>T	ENSP00000384468.2:p.Lys1672Asn
ENST00000439117.6:c.*4384G>T	ENSP00000406980.2:n.*4384G>T
ENST00000439673.6:c.4908G>T	ENSP00000399232.2:p.Lys1636Asn
ENST00000497886.5:n.2940G>T
ENST00000568454.5:c.5049G>T	ENSP00000454487.1:p.Lys1683Asn
ENST00000569110.1:c.1399G>T
ENST00000569930.1:n.2332G>T
NM_000548.3:c.5217G>T , LRG_487t1:c.5217G>T	NP_000539.2:p.Lys1739Asn
NM_001077183.1:c.5016G>T	NP_001070651.1:p.Lys1672Asn
NM_001114382.1:c.5148G>T	NP_001107854.1:p.Lys1716Asn
XM_005255529.3:c.5088G>T	XP_005255586.2:p.Lys1696Asn
XM_005255531.3:c.5019G>T	XP_005255588.2:p.Lys1673Asn
XM_011522636.1:c.5271G>T	XP_011520938.1:p.Lys1757Asn
XM_011522637.1:c.5268G>T	XP_011520939.1:p.Lys1756Asn
XM_011522638.1:c.5160G>T	XP_011520940.1:p.Lys1720Asn
XM_011522639.1:c.5142G>T	XP_011520941.1:p.Lys1714Asn
XM_011522640.1:c.5139G>T	XP_011520942.1:p.Lys1713Asn
XM_011522641.1:c.4908G>T	XP_011520943.1:p.Lys1636Asn
NM_000548.4:c.5217G>T	NP_000539.2:p.Lys1739Asn
NM_001077183.2:c.5016G>T	NP_001070651.1:p.Lys1672Asn
NM_001114382.2:c.5148G>T	NP_001107854.1:p.Lys1716Asn
NM_001318827.1:c.4908G>T	NP_001305756.1:p.Lys1636Asn
NM_001318829.1:c.4872G>T	NP_001305758.1:p.Lys1624Asn
NM_001318831.1:c.4485G>T	NP_001305760.1:p.Lys1495Asn
NM_001318832.1:c.5049G>T	NP_001305761.1:p.Lys1683Asn
NM_001363528.1:c.5019G>T	NP_001350457.1:p.Lys1673Asn
NM_021055.2:c.5088G>T	NP_066399.2:p.Lys1696Asn
XM_005255531.4:c.5019G>T	XP_005255588.2:p.Lys1673Asn
XM_011522636.2:c.5271G>T	XP_011520938.1:p.Lys1757Asn
XM_011522637.2:c.5268G>T	XP_011520939.1:p.Lys1756Asn
XM_011522638.2:c.5433G>T	XP_011520940.2:p.Lys1811Asn
XM_011522639.2:c.5142G>T	XP_011520941.1:p.Lys1714Asn
XM_011522640.2:c.5139G>T	XP_011520942.1:p.Lys1713Asn
XM_017023615.1:c.5214G>T	XP_016879104.1:p.Lys1738Asn
XM_017023616.1:c.5085G>T	XP_016879105.1:p.Lys1695Asn
XM_017023617.1:c.5181G>T	XP_016879106.1:p.Lys1727Asn
XM_017023618.1:c.3927G>T	XP_016879107.1:p.Lys1309Asn
XM_024450413.1:c.5103G>T	XP_024306181.1:p.Lys1701Asn
NM_000548.5:c.5217G>T MANE Select	NP_000539.2:p.Lys1739Asn
NM_001370404.1:c.5085G>T	NP_001357333.1:p.Lys1695Asn
NM_001370405.1:c.5076G>T	NP_001357334.1:p.Lys1692Asn
NM_001077183.3:c.5016G>T	NP_001070651.1:p.Lys1672Asn
NM_001114382.3:c.5148G>T	NP_001107854.1:p.Lys1716Asn
NM_001318827.2:c.4908G>T	NP_001305756.1:p.Lys1636Asn
NM_001318829.2:c.4872G>T	NP_001305758.1:p.Lys1624Asn
NM_001318831.2:c.4485G>T	NP_001305760.1:p.Lys1495Asn
NM_001318832.2:c.5049G>T	NP_001305761.1:p.Lys1683Asn
NM_001363528.2:c.5019G>T	NP_001350457.1:p.Lys1673Asn
NM_021055.3:c.5088G>T	NP_066399.2:p.Lys1696Asn