Canonical Allele Identifier: CA394308164

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2136380G>T (hg19) ; chr16:g.2086379G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086379G>T , CM000678.2:g.2086379G>T	GRCh38
NC_000016.9:g.2136380G>T , CM000678.1:g.2136380G>T	GRCh37
NC_000016.8:g.2076381G>T	NCBI36
NG_005895.1:g.42074G>T , LRG_487:g.42074G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3198G>T	ENSP00000455997.2:n.*3198G>T
ENST00000642206.2:c.4696G>T	ENSP00000495146.2:p.Ala1566Ser
ENST00000642365.2:c.4846G>T	ENSP00000495459.2:p.Ala1616Ser
ENST00000644417.2:c.*5362G>T	ENSP00000493912.2:n.*5362G>T
ENST00000646464.2:c.*7598G>T	ENSP00000496610.2:n.*7598G>T
ENST00000219476.9:c.4849G>T MANE Select	ENSP00000219476.3:p.Ala1617Ser
ENST00000350773.9:c.4780G>T	ENSP00000344383.4:p.Ala1594Ser
ENST00000401874.7:c.4648G>T	ENSP00000384468.2:p.Ala1550Ser
ENST00000568454.6:c.4681G>T	ENSP00000454487.1:p.Ala1561Ser
ENST00000569110.2:c.1072G>T
ENST00000569930.2:n.2731G>T
ENST00000642365.1:c.3503G>T
ENST00000642561.1:c.4720G>T	ENSP00000495099.1:p.Ala1574Ser
ENST00000642728.1:n.1031G>T
ENST00000642791.1:n.446G>T
ENST00000642797.1:c.4651G>T	ENSP00000493846.1:p.Ala1551Ser
ENST00000642936.1:c.4717G>T	ENSP00000494514.1:p.Ala1573Ser
ENST00000643088.1:c.4642G>T	ENSP00000494747.1:p.Ala1548Ser
ENST00000643177.1:n.863G>T
ENST00000643426.1:n.2497G>T
ENST00000643946.1:c.4774G>T	ENSP00000495927.1:p.Ala1592Ser
ENST00000644043.1:c.4720G>T	ENSP00000496262.1:p.Ala1574Ser
ENST00000644278.1:n.331G>T
ENST00000644329.1:c.4648G>T	ENSP00000496611.1:p.Ala1550Ser
ENST00000644335.1:c.4645G>T	ENSP00000496317.1:p.Ala1549Ser
ENST00000644399.1:c.4770G>T
ENST00000645024.1:n.2933G>T
ENST00000646388.1:c.4843G>T	ENSP00000495921.1:p.Ala1615Ser
ENST00000646557.1:n.10G>T
ENST00000646634.1:n.3664G>T
ENST00000646674.1:n.2101G>T
ENST00000647042.1:n.2072G>T
ENST00000647180.1:n.1962G>T
ENST00000219476.7:c.4849G>T	ENSP00000219476.3:p.Ala1617Ser
ENST00000350773.8:c.4780G>T	ENSP00000344383.4:p.Ala1594Ser
ENST00000382538.10:c.4504G>T	ENSP00000371978.6:p.Ala1502Ser
ENST00000401874.6:c.4648G>T	ENSP00000384468.2:p.Ala1550Ser
ENST00000439117.6:c.*4016G>T	ENSP00000406980.2:n.*4016G>T
ENST00000439673.6:c.4540G>T	ENSP00000399232.2:p.Ala1514Ser
ENST00000497886.5:n.2607G>T
ENST00000568454.5:c.4681G>T	ENSP00000454487.1:p.Ala1561Ser
ENST00000569110.1:c.1031G>T
ENST00000569930.1:n.1964G>T
NM_000548.3:c.4849G>T , LRG_487t1:c.4849G>T	NP_000539.2:p.Ala1617Ser
NM_001077183.1:c.4648G>T	NP_001070651.1:p.Ala1550Ser
NM_001114382.1:c.4780G>T	NP_001107854.1:p.Ala1594Ser
XM_005255529.3:c.4720G>T	XP_005255586.2:p.Ala1574Ser
XM_005255531.3:c.4651G>T	XP_005255588.2:p.Ala1551Ser
XM_011522636.1:c.4903G>T	XP_011520938.1:p.Ala1635Ser
XM_011522637.1:c.4900G>T	XP_011520939.1:p.Ala1634Ser
XM_011522638.1:c.4792G>T	XP_011520940.1:p.Ala1598Ser
XM_011522639.1:c.4774G>T	XP_011520941.1:p.Ala1592Ser
XM_011522640.1:c.4771G>T	XP_011520942.1:p.Ala1591Ser
XM_011522641.1:c.4540G>T	XP_011520943.1:p.Ala1514Ser
NM_000548.4:c.4849G>T	NP_000539.2:p.Ala1617Ser
NM_001077183.2:c.4648G>T	NP_001070651.1:p.Ala1550Ser
NM_001114382.2:c.4780G>T	NP_001107854.1:p.Ala1594Ser
NM_001318827.1:c.4540G>T	NP_001305756.1:p.Ala1514Ser
NM_001318829.1:c.4504G>T	NP_001305758.1:p.Ala1502Ser
NM_001318831.1:c.4117G>T	NP_001305760.1:p.Ala1373Ser
NM_001318832.1:c.4681G>T	NP_001305761.1:p.Ala1561Ser
NM_001363528.1:c.4651G>T	NP_001350457.1:p.Ala1551Ser
NM_021055.2:c.4720G>T	NP_066399.2:p.Ala1574Ser
XM_005255531.4:c.4651G>T	XP_005255588.2:p.Ala1551Ser
XM_011522636.2:c.4903G>T	XP_011520938.1:p.Ala1635Ser
XM_011522637.2:c.4900G>T	XP_011520939.1:p.Ala1634Ser
XM_011522638.2:c.5065G>T	XP_011520940.2:p.Ala1689Ser
XM_011522639.2:c.4774G>T	XP_011520941.1:p.Ala1592Ser
XM_011522640.2:c.4771G>T	XP_011520942.1:p.Ala1591Ser
XM_017023615.1:c.4846G>T	XP_016879104.1:p.Ala1616Ser
XM_017023616.1:c.4717G>T	XP_016879105.1:p.Ala1573Ser
XM_017023617.1:c.4813G>T	XP_016879106.1:p.Ala1605Ser
XM_017023618.1:c.3559G>T	XP_016879107.1:p.Ala1187Ser
XM_024450413.1:c.4648G>T	XP_024306181.1:p.Ala1550Ser
NM_000548.5:c.4849G>T MANE Select	NP_000539.2:p.Ala1617Ser
NM_001370404.1:c.4717G>T	NP_001357333.1:p.Ala1573Ser
NM_001370405.1:c.4720G>T	NP_001357334.1:p.Ala1574Ser
NM_001077183.3:c.4648G>T	NP_001070651.1:p.Ala1550Ser
NM_001114382.3:c.4780G>T	NP_001107854.1:p.Ala1594Ser
NM_001318827.2:c.4540G>T	NP_001305756.1:p.Ala1514Ser
NM_001318829.2:c.4504G>T	NP_001305758.1:p.Ala1502Ser
NM_001318831.2:c.4117G>T	NP_001305760.1:p.Ala1373Ser
NM_001318832.2:c.4681G>T	NP_001305761.1:p.Ala1561Ser
NM_001363528.2:c.4651G>T	NP_001350457.1:p.Ala1551Ser
NM_021055.3:c.4720G>T	NP_066399.2:p.Ala1574Ser