Canonical Allele Identifier: CA394315042
Community Standard Title: NM_000548.5(TSC2):c.5264G>T (p.Cys1755Phe)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088450G>T , CM000678.2:g.2088450G>T GRCh38
NC_000016.9:g.2138451G>T , CM000678.1:g.2138451G>T GRCh37
NC_000016.8:g.2078452G>T NCBI36
NG_005895.1:g.44145G>T , LRG_487:g.44145G>T
NG_008617.1:g.54771C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5264G>T MANE Select NP_000539.2:p.Cys1755Phe
ENST00000219476.9:c.5264G>T MANE Select ENSP00000219476.3:p.Cys1755Phe
NM_000548.3:c.5264G>T , LRG_487t1:c.5264G>T NP_000539.2:p.Cys1755Phe
NM_000548.4:c.5264G>T NP_000539.2:p.Cys1755Phe
NM_001077183.1:c.5063G>T NP_001070651.1:p.Cys1688Phe
NM_001077183.2:c.5063G>T NP_001070651.1:p.Cys1688Phe
NM_001077183.3:c.5063G>T NP_001070651.1:p.Cys1688Phe
NM_001114382.1:c.5195G>T NP_001107854.1:p.Cys1732Phe
NM_001114382.2:c.5195G>T NP_001107854.1:p.Cys1732Phe
NM_001114382.3:c.5195G>T NP_001107854.1:p.Cys1732Phe
NM_001318827.1:c.4955G>T NP_001305756.1:p.Cys1652Phe
NM_001318827.2:c.4955G>T NP_001305756.1:p.Cys1652Phe
NM_001318829.1:c.4919G>T NP_001305758.1:p.Cys1640Phe
NM_001318829.2:c.4919G>T NP_001305758.1:p.Cys1640Phe
NM_001318831.1:c.4532G>T NP_001305760.1:p.Cys1511Phe
NM_001318831.2:c.4532G>T NP_001305760.1:p.Cys1511Phe
NM_001318832.1:c.5096G>T NP_001305761.1:p.Cys1699Phe
NM_001318832.2:c.5096G>T NP_001305761.1:p.Cys1699Phe
NM_001363528.1:c.5066G>T NP_001350457.1:p.Cys1689Phe
NM_001363528.2:c.5066G>T NP_001350457.1:p.Cys1689Phe
NM_001370404.1:c.5132G>T NP_001357333.1:p.Cys1711Phe
NM_001370405.1:c.5123G>T NP_001357334.1:p.Cys1708Phe
NM_021055.2:c.5135G>T NP_066399.2:p.Cys1712Phe
NM_021055.3:c.5135G>T NP_066399.2:p.Cys1712Phe
ENST00000219476.7:c.5264G>T ENSP00000219476.3:p.Cys1755Phe
ENST00000350773.8:c.5195G>T ENSP00000344383.4:p.Cys1732Phe
ENST00000350773.9:c.5195G>T ENSP00000344383.4:p.Cys1732Phe
ENST00000382538.10:c.4919G>T ENSP00000371978.6:p.Cys1640Phe
ENST00000401874.6:c.5063G>T ENSP00000384468.2:p.Cys1688Phe
ENST00000401874.7:c.5063G>T ENSP00000384468.2:p.Cys1688Phe
ENST00000439117.6:c.*4431G>T ENSP00000406980.2:n.*4431G>T
ENST00000439673.6:c.4955G>T ENSP00000399232.2:p.Cys1652Phe
ENST00000497886.5:n.2987G>T
ENST00000568454.5:c.5096G>T ENSP00000454487.1:p.Cys1699Phe
ENST00000568454.6:c.5096G>T ENSP00000454487.1:p.Cys1699Phe
ENST00000568566.6:c.*3613G>T ENSP00000455997.2:n.*3613G>T
ENST00000569110.1:c.1446G>T
ENST00000569110.2:c.1487G>T
ENST00000569930.1:n.2379G>T
ENST00000569930.2:n.3146G>T
ENST00000642206.2:c.5111G>T ENSP00000495146.2:p.Cys1704Phe
ENST00000642365.1:c.3918G>T
ENST00000642365.2:c.5261G>T ENSP00000495459.2:p.Cys1754Phe
ENST00000642561.1:c.5123G>T ENSP00000495099.1:p.Cys1708Phe
ENST00000642791.1:n.861G>T
ENST00000642797.1:c.5066G>T ENSP00000493846.1:p.Cys1689Phe
ENST00000642936.1:c.5132G>T ENSP00000494514.1:p.Cys1711Phe
ENST00000643088.1:c.5057G>T ENSP00000494747.1:p.Cys1686Phe
ENST00000643426.1:n.2912G>T
ENST00000643946.1:c.5189G>T ENSP00000495927.1:p.Cys1730Phe
ENST00000644043.1:c.5135G>T ENSP00000496262.1:p.Cys1712Phe
ENST00000644329.1:c.5150G>T ENSP00000496611.1:p.Cys1717Phe
ENST00000644335.1:c.5060G>T ENSP00000496317.1:p.Cys1687Phe
ENST00000644399.1:c.5185G>T
ENST00000644417.2:c.*5777G>T ENSP00000493912.2:n.*5777G>T
ENST00000645024.1:n.3348G>T
ENST00000646388.1:c.5258G>T ENSP00000495921.1:p.Cys1753Phe
ENST00000646464.2:c.*8013G>T ENSP00000496610.2:n.*8013G>T
ENST00000646634.1:n.4079G>T
ENST00000646674.1:n.2516G>T
ENST00000647042.1:n.2487G>T
ENST00000647180.1:n.2377G>T
XM_005255529.3:c.5135G>T XP_005255586.2:p.Cys1712Phe
XM_005255531.3:c.5066G>T XP_005255588.2:p.Cys1689Phe
XM_005255531.4:c.5066G>T XP_005255588.2:p.Cys1689Phe
XM_011522636.1:c.5318G>T XP_011520938.1:p.Cys1773Phe
XM_011522636.2:c.5318G>T XP_011520938.1:p.Cys1773Phe
XM_011522637.1:c.5315G>T XP_011520939.1:p.Cys1772Phe
XM_011522637.2:c.5315G>T XP_011520939.1:p.Cys1772Phe
XM_011522638.1:c.5207G>T XP_011520940.1:p.Cys1736Phe
XM_011522638.2:c.5480G>T XP_011520940.2:p.Cys1827Phe
XM_011522639.1:c.5189G>T XP_011520941.1:p.Cys1730Phe
XM_011522639.2:c.5189G>T XP_011520941.1:p.Cys1730Phe
XM_011522640.1:c.5186G>T XP_011520942.1:p.Cys1729Phe
XM_011522640.2:c.5186G>T XP_011520942.1:p.Cys1729Phe
XM_011522641.1:c.4955G>T XP_011520943.1:p.Cys1652Phe
XM_017023615.1:c.5261G>T XP_016879104.1:p.Cys1754Phe
XM_017023616.1:c.5132G>T XP_016879105.1:p.Cys1711Phe
XM_017023617.1:c.5228G>T XP_016879106.1:p.Cys1743Phe
XM_017023618.1:c.3974G>T XP_016879107.1:p.Cys1325Phe
XM_024450413.1:c.5150G>T XP_024306181.1:p.Cys1717Phe