Canonical Allele Identifier: CA052399
Community Standard Title: NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086268C>T , CM000678.2:g.2086268C>T GRCh38
NC_000016.9:g.2136269C>T , CM000678.1:g.2136269C>T GRCh37
NC_000016.8:g.2076270C>T NCBI36
NG_005895.1:g.41963C>T , LRG_487:g.41963C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4738C>T MANE Select NP_000539.2:p.Arg1580Trp
ENST00000219476.9:c.4738C>T MANE Select ENSP00000219476.3:p.Arg1580Trp
NM_000548.3:c.4738C>T , LRG_487t1:c.4738C>T NP_000539.2:p.Arg1580Trp
NM_000548.4:c.4738C>T NP_000539.2:p.Arg1580Trp
NM_001077183.1:c.4537C>T NP_001070651.1:p.Arg1513Trp
NM_001077183.2:c.4537C>T NP_001070651.1:p.Arg1513Trp
NM_001077183.3:c.4537C>T NP_001070651.1:p.Arg1513Trp
NM_001114382.1:c.4669C>T NP_001107854.1:p.Arg1557Trp
NM_001114382.2:c.4669C>T NP_001107854.1:p.Arg1557Trp
NM_001114382.3:c.4669C>T NP_001107854.1:p.Arg1557Trp
NM_001318827.1:c.4429C>T NP_001305756.1:p.Arg1477Trp
NM_001318827.2:c.4429C>T NP_001305756.1:p.Arg1477Trp
NM_001318829.1:c.4393C>T NP_001305758.1:p.Arg1465Trp
NM_001318829.2:c.4393C>T NP_001305758.1:p.Arg1465Trp
NM_001318831.1:c.4006C>T NP_001305760.1:p.Arg1336Trp
NM_001318831.2:c.4006C>T NP_001305760.1:p.Arg1336Trp
NM_001318832.1:c.4570C>T NP_001305761.1:p.Arg1524Trp
NM_001318832.2:c.4570C>T NP_001305761.1:p.Arg1524Trp
NM_001363528.1:c.4540C>T NP_001350457.1:p.Arg1514Trp
NM_001363528.2:c.4540C>T NP_001350457.1:p.Arg1514Trp
NM_001370404.1:c.4606C>T NP_001357333.1:p.Arg1536Trp
NM_001370405.1:c.4609C>T NP_001357334.1:p.Arg1537Trp
NM_021055.2:c.4609C>T NP_066399.2:p.Arg1537Trp
NM_021055.3:c.4609C>T NP_066399.2:p.Arg1537Trp
ENST00000219476.7:c.4738C>T ENSP00000219476.3:p.Arg1580Trp
ENST00000350773.8:c.4669C>T ENSP00000344383.4:p.Arg1557Trp
ENST00000350773.9:c.4669C>T ENSP00000344383.4:p.Arg1557Trp
ENST00000382538.10:c.4393C>T ENSP00000371978.6:p.Arg1465Trp
ENST00000401874.6:c.4537C>T ENSP00000384468.2:p.Arg1513Trp
ENST00000401874.7:c.4537C>T ENSP00000384468.2:p.Arg1513Trp
ENST00000439117.6:c.*3905C>T ENSP00000406980.2:n.*3905C>T
ENST00000439673.6:c.4429C>T ENSP00000399232.2:p.Arg1477Trp
ENST00000497886.5:n.2496C>T
ENST00000568454.5:c.4570C>T ENSP00000454487.1:p.Arg1524Trp
ENST00000568454.6:c.4570C>T ENSP00000454487.1:p.Arg1524Trp
ENST00000568566.6:c.*3087C>T ENSP00000455997.2:n.*3087C>T
ENST00000569110.1:c.920C>T
ENST00000569110.2:c.961C>T
ENST00000569930.1:n.1853C>T
ENST00000569930.2:n.2620C>T
ENST00000642206.2:c.4585C>T ENSP00000495146.2:p.Arg1529Trp
ENST00000642365.1:c.3392C>T
ENST00000642365.2:c.4735C>T ENSP00000495459.2:p.Arg1579Trp
ENST00000642561.1:c.4609C>T ENSP00000495099.1:p.Arg1537Trp
ENST00000642728.1:n.920C>T
ENST00000642791.1:n.335C>T
ENST00000642797.1:c.4540C>T ENSP00000493846.1:p.Arg1514Trp
ENST00000642936.1:c.4606C>T ENSP00000494514.1:p.Arg1536Trp
ENST00000643088.1:c.4531C>T ENSP00000494747.1:p.Arg1511Trp
ENST00000643177.1:n.752C>T
ENST00000643426.1:n.2386C>T
ENST00000643946.1:c.4663C>T ENSP00000495927.1:p.Arg1555Trp
ENST00000644043.1:c.4609C>T ENSP00000496262.1:p.Arg1537Trp
ENST00000644278.1:n.220C>T
ENST00000644329.1:c.4537C>T ENSP00000496611.1:p.Arg1513Trp
ENST00000644335.1:c.4534C>T ENSP00000496317.1:p.Arg1512Trp
ENST00000644399.1:c.4659C>T
ENST00000644417.2:c.*5251C>T ENSP00000493912.2:n.*5251C>T
ENST00000645024.1:n.2822C>T
ENST00000646388.1:c.4732C>T ENSP00000495921.1:p.Arg1578Trp
ENST00000646464.2:c.*7487C>T ENSP00000496610.2:n.*7487C>T
ENST00000646634.1:n.3553C>T
ENST00000646674.1:n.1990C>T
ENST00000647042.1:n.1961C>T
ENST00000647180.1:n.1851C>T
XM_005255529.3:c.4609C>T XP_005255586.2:p.Arg1537Trp
XM_005255531.3:c.4540C>T XP_005255588.2:p.Arg1514Trp
XM_005255531.4:c.4540C>T XP_005255588.2:p.Arg1514Trp
XM_011522636.1:c.4792C>T XP_011520938.1:p.Arg1598Trp
XM_011522636.2:c.4792C>T XP_011520938.1:p.Arg1598Trp
XM_011522637.1:c.4789C>T XP_011520939.1:p.Arg1597Trp
XM_011522637.2:c.4789C>T XP_011520939.1:p.Arg1597Trp
XM_011522638.1:c.4681C>T XP_011520940.1:p.Arg1561Trp
XM_011522638.2:c.4954C>T XP_011520940.2:p.Arg1652Trp
XM_011522639.1:c.4663C>T XP_011520941.1:p.Arg1555Trp
XM_011522639.2:c.4663C>T XP_011520941.1:p.Arg1555Trp
XM_011522640.1:c.4660C>T XP_011520942.1:p.Arg1554Trp
XM_011522640.2:c.4660C>T XP_011520942.1:p.Arg1554Trp
XM_011522641.1:c.4429C>T XP_011520943.1:p.Arg1477Trp
XM_017023615.1:c.4735C>T XP_016879104.1:p.Arg1579Trp
XM_017023616.1:c.4606C>T XP_016879105.1:p.Arg1536Trp
XM_017023617.1:c.4702C>T XP_016879106.1:p.Arg1568Trp
XM_017023618.1:c.3448C>T XP_016879107.1:p.Arg1150Trp
XM_024450413.1:c.4537C>T XP_024306181.1:p.Arg1513Trp