Canonical Allele Identifier: CA394315595

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138516C>A (hg19) ; chr16:g.2088515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088515C>A , CM000678.2:g.2088515C>A	GRCh38
NC_000016.9:g.2138516C>A , CM000678.1:g.2138516C>A	GRCh37
NC_000016.8:g.2078517C>A	NCBI36
NG_005895.1:g.44210C>A , LRG_487:g.44210C>A
NG_008617.1:g.54706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3678C>A	ENSP00000455997.2:n.*3678C>A
ENST00000642206.2:c.5176C>A	ENSP00000495146.2:p.Pro1726Thr
ENST00000642365.2:c.5326C>A	ENSP00000495459.2:p.Pro1776Thr
ENST00000644417.2:c.*5842C>A	ENSP00000493912.2:n.*5842C>A
ENST00000646464.2:c.*8078C>A	ENSP00000496610.2:n.*8078C>A
ENST00000219476.9:c.5329C>A MANE Select	ENSP00000219476.3:p.Pro1777Thr
ENST00000350773.9:c.5260C>A	ENSP00000344383.4:p.Pro1754Thr
ENST00000401874.7:c.5128C>A	ENSP00000384468.2:p.Pro1710Thr
ENST00000568454.6:c.5161C>A	ENSP00000454487.1:p.Pro1721Thr
ENST00000569110.2:c.1552C>A
ENST00000569930.2:n.3211C>A
ENST00000642365.1:c.3983C>A
ENST00000642561.1:c.5188C>A	ENSP00000495099.1:p.Pro1730Thr
ENST00000642791.1:n.926C>A
ENST00000642797.1:c.5131C>A	ENSP00000493846.1:p.Pro1711Thr
ENST00000642936.1:c.5197C>A	ENSP00000494514.1:p.Pro1733Thr
ENST00000643088.1:c.5122C>A	ENSP00000494747.1:p.Pro1708Thr
ENST00000643426.1:n.2977C>A
ENST00000643946.1:c.5254C>A	ENSP00000495927.1:p.Pro1752Thr
ENST00000644043.1:c.5200C>A	ENSP00000496262.1:p.Pro1734Thr
ENST00000644329.1:c.5215C>A	ENSP00000496611.1:p.Pro1739Thr
ENST00000644335.1:c.5125C>A	ENSP00000496317.1:p.Pro1709Thr
ENST00000644399.1:c.5250C>A
ENST00000645024.1:n.3413C>A
ENST00000646388.1:c.5323C>A	ENSP00000495921.1:p.Pro1775Thr
ENST00000646634.1:n.4144C>A
ENST00000646674.1:n.2581C>A
ENST00000647042.1:n.2552C>A
ENST00000647180.1:n.2442C>A
ENST00000219476.7:c.5329C>A	ENSP00000219476.3:p.Pro1777Thr
ENST00000350773.8:c.5260C>A	ENSP00000344383.4:p.Pro1754Thr
ENST00000382538.10:c.4984C>A	ENSP00000371978.6:p.Pro1662Thr
ENST00000401874.6:c.5128C>A	ENSP00000384468.2:p.Pro1710Thr
ENST00000439117.6:c.*4496C>A	ENSP00000406980.2:n.*4496C>A
ENST00000439673.6:c.5020C>A	ENSP00000399232.2:p.Pro1674Thr
ENST00000497886.5:n.3052C>A
ENST00000568454.5:c.5161C>A	ENSP00000454487.1:p.Pro1721Thr
ENST00000569110.1:c.1511C>A
ENST00000569930.1:n.2444C>A
NM_000548.3:c.5329C>A , LRG_487t1:c.5329C>A	NP_000539.2:p.Pro1777Thr
NM_001077183.1:c.5128C>A	NP_001070651.1:p.Pro1710Thr
NM_001114382.1:c.5260C>A	NP_001107854.1:p.Pro1754Thr
XM_005255529.3:c.5200C>A	XP_005255586.2:p.Pro1734Thr
XM_005255531.3:c.5131C>A	XP_005255588.2:p.Pro1711Thr
XM_011522636.1:c.5383C>A	XP_011520938.1:p.Pro1795Thr
XM_011522637.1:c.5380C>A	XP_011520939.1:p.Pro1794Thr
XM_011522638.1:c.5272C>A	XP_011520940.1:p.Pro1758Thr
XM_011522639.1:c.5254C>A	XP_011520941.1:p.Pro1752Thr
XM_011522640.1:c.5251C>A	XP_011520942.1:p.Pro1751Thr
XM_011522641.1:c.5020C>A	XP_011520943.1:p.Pro1674Thr
NM_000548.4:c.5329C>A	NP_000539.2:p.Pro1777Thr
NM_001077183.2:c.5128C>A	NP_001070651.1:p.Pro1710Thr
NM_001114382.2:c.5260C>A	NP_001107854.1:p.Pro1754Thr
NM_001318827.1:c.5020C>A	NP_001305756.1:p.Pro1674Thr
NM_001318829.1:c.4984C>A	NP_001305758.1:p.Pro1662Thr
NM_001318831.1:c.4597C>A	NP_001305760.1:p.Pro1533Thr
NM_001318832.1:c.5161C>A	NP_001305761.1:p.Pro1721Thr
NM_001363528.1:c.5131C>A	NP_001350457.1:p.Pro1711Thr
NM_021055.2:c.5200C>A	NP_066399.2:p.Pro1734Thr
XM_005255531.4:c.5131C>A	XP_005255588.2:p.Pro1711Thr
XM_011522636.2:c.5383C>A	XP_011520938.1:p.Pro1795Thr
XM_011522637.2:c.5380C>A	XP_011520939.1:p.Pro1794Thr
XM_011522638.2:c.5545C>A	XP_011520940.2:p.Pro1849Thr
XM_011522639.2:c.5254C>A	XP_011520941.1:p.Pro1752Thr
XM_011522640.2:c.5251C>A	XP_011520942.1:p.Pro1751Thr
XM_017023615.1:c.5326C>A	XP_016879104.1:p.Pro1776Thr
XM_017023616.1:c.5197C>A	XP_016879105.1:p.Pro1733Thr
XM_017023617.1:c.5293C>A	XP_016879106.1:p.Pro1765Thr
XM_017023618.1:c.4039C>A	XP_016879107.1:p.Pro1347Thr
XM_024450413.1:c.5215C>A	XP_024306181.1:p.Pro1739Thr
NM_000548.5:c.5329C>A MANE Select	NP_000539.2:p.Pro1777Thr
NM_001370404.1:c.5197C>A	NP_001357333.1:p.Pro1733Thr
NM_001370405.1:c.5188C>A	NP_001357334.1:p.Pro1730Thr
NM_001077183.3:c.5128C>A	NP_001070651.1:p.Pro1710Thr
NM_001114382.3:c.5260C>A	NP_001107854.1:p.Pro1754Thr
NM_001318827.2:c.5020C>A	NP_001305756.1:p.Pro1674Thr
NM_001318829.2:c.4984C>A	NP_001305758.1:p.Pro1662Thr
NM_001318831.2:c.4597C>A	NP_001305760.1:p.Pro1533Thr
NM_001318832.2:c.5161C>A	NP_001305761.1:p.Pro1721Thr
NM_001363528.2:c.5131C>A	NP_001350457.1:p.Pro1711Thr
NM_021055.3:c.5200C>A	NP_066399.2:p.Pro1734Thr