Canonical Allele Identifier: CA394308262
Community Standard Title: NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086743A>G , CM000678.2:g.2086743A>G GRCh38
NC_000016.9:g.2136744A>G , CM000678.1:g.2136744A>G GRCh37
NC_000016.8:g.2076745A>G NCBI36
NG_005895.1:g.42438A>G , LRG_487:g.42438A>G
NG_008617.1:g.56478T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4861A>G MANE Select NP_000539.2:p.Ile1621Val
ENST00000219476.9:c.4861A>G MANE Select ENSP00000219476.3:p.Ile1621Val
NM_000548.3:c.4861A>G , LRG_487t1:c.4861A>G NP_000539.2:p.Ile1621Val
NM_000548.4:c.4861A>G NP_000539.2:p.Ile1621Val
NM_001077183.1:c.4660A>G NP_001070651.1:p.Ile1554Val
NM_001077183.2:c.4660A>G NP_001070651.1:p.Ile1554Val
NM_001077183.3:c.4660A>G NP_001070651.1:p.Ile1554Val
NM_001114382.1:c.4792A>G NP_001107854.1:p.Ile1598Val
NM_001114382.2:c.4792A>G NP_001107854.1:p.Ile1598Val
NM_001114382.3:c.4792A>G NP_001107854.1:p.Ile1598Val
NM_001318827.1:c.4552A>G NP_001305756.1:p.Ile1518Val
NM_001318827.2:c.4552A>G NP_001305756.1:p.Ile1518Val
NM_001318829.1:c.4516A>G NP_001305758.1:p.Ile1506Val
NM_001318829.2:c.4516A>G NP_001305758.1:p.Ile1506Val
NM_001318831.1:c.4129A>G NP_001305760.1:p.Ile1377Val
NM_001318831.2:c.4129A>G NP_001305760.1:p.Ile1377Val
NM_001318832.1:c.4693A>G NP_001305761.1:p.Ile1565Val
NM_001318832.2:c.4693A>G NP_001305761.1:p.Ile1565Val
NM_001363528.1:c.4663A>G NP_001350457.1:p.Ile1555Val
NM_001363528.2:c.4663A>G NP_001350457.1:p.Ile1555Val
NM_001370404.1:c.4729A>G NP_001357333.1:p.Ile1577Val
NM_001370405.1:c.4732A>G NP_001357334.1:p.Ile1578Val
NM_021055.2:c.4732A>G NP_066399.2:p.Ile1578Val
NM_021055.3:c.4732A>G NP_066399.2:p.Ile1578Val
ENST00000219476.7:c.4861A>G ENSP00000219476.3:p.Ile1621Val
ENST00000350773.8:c.4792A>G ENSP00000344383.4:p.Ile1598Val
ENST00000350773.9:c.4792A>G ENSP00000344383.4:p.Ile1598Val
ENST00000382538.10:c.4516A>G ENSP00000371978.6:p.Ile1506Val
ENST00000401874.6:c.4660A>G ENSP00000384468.2:p.Ile1554Val
ENST00000401874.7:c.4660A>G ENSP00000384468.2:p.Ile1554Val
ENST00000439117.6:c.*4028A>G ENSP00000406980.2:n.*4028A>G
ENST00000439673.6:c.4552A>G ENSP00000399232.2:p.Ile1518Val
ENST00000497886.5:n.2608-24A>G
ENST00000568454.5:c.4693A>G ENSP00000454487.1:p.Ile1565Val
ENST00000568454.6:c.4693A>G ENSP00000454487.1:p.Ile1565Val
ENST00000568566.6:c.*3210A>G ENSP00000455997.2:n.*3210A>G
ENST00000569110.1:c.1043A>G
ENST00000569110.2:c.1084A>G
ENST00000569930.1:n.1976A>G
ENST00000569930.2:n.2743A>G
ENST00000642206.2:c.4708A>G ENSP00000495146.2:p.Ile1570Val
ENST00000642365.1:c.3515A>G
ENST00000642365.2:c.4858A>G ENSP00000495459.2:p.Ile1620Val
ENST00000642561.1:c.4732A>G ENSP00000495099.1:p.Ile1578Val
ENST00000642728.1:n.1043A>G
ENST00000642791.1:n.458A>G
ENST00000642797.1:c.4663A>G ENSP00000493846.1:p.Ile1555Val
ENST00000642936.1:c.4729A>G ENSP00000494514.1:p.Ile1577Val
ENST00000643088.1:c.4654A>G ENSP00000494747.1:p.Ile1552Val
ENST00000643177.1:n.875A>G
ENST00000643426.1:n.2509A>G
ENST00000643946.1:c.4786A>G ENSP00000495927.1:p.Ile1596Val
ENST00000644043.1:c.4732A>G ENSP00000496262.1:p.Ile1578Val
ENST00000644278.1:n.343A>G
ENST00000644329.1:c.4660A>G ENSP00000496611.1:p.Ile1554Val
ENST00000644335.1:c.4657A>G ENSP00000496317.1:p.Ile1553Val
ENST00000644399.1:c.4782A>G
ENST00000644417.2:c.*5374A>G ENSP00000493912.2:n.*5374A>G
ENST00000645024.1:n.2945A>G
ENST00000646388.1:c.4855A>G ENSP00000495921.1:p.Ile1619Val
ENST00000646464.2:c.*7610A>G ENSP00000496610.2:n.*7610A>G
ENST00000646557.1:n.22A>G
ENST00000646634.1:n.3676A>G
ENST00000646674.1:n.2113A>G
ENST00000647042.1:n.2084A>G
ENST00000647180.1:n.1974A>G
XM_005255529.3:c.4732A>G XP_005255586.2:p.Ile1578Val
XM_005255531.3:c.4663A>G XP_005255588.2:p.Ile1555Val
XM_005255531.4:c.4663A>G XP_005255588.2:p.Ile1555Val
XM_011522636.1:c.4915A>G XP_011520938.1:p.Ile1639Val
XM_011522636.2:c.4915A>G XP_011520938.1:p.Ile1639Val
XM_011522637.1:c.4912A>G XP_011520939.1:p.Ile1638Val
XM_011522637.2:c.4912A>G XP_011520939.1:p.Ile1638Val
XM_011522638.1:c.4804A>G XP_011520940.1:p.Ile1602Val
XM_011522638.2:c.5077A>G XP_011520940.2:p.Ile1693Val
XM_011522639.1:c.4786A>G XP_011520941.1:p.Ile1596Val
XM_011522639.2:c.4786A>G XP_011520941.1:p.Ile1596Val
XM_011522640.1:c.4783A>G XP_011520942.1:p.Ile1595Val
XM_011522640.2:c.4783A>G XP_011520942.1:p.Ile1595Val
XM_011522641.1:c.4552A>G XP_011520943.1:p.Ile1518Val
XM_017023615.1:c.4858A>G XP_016879104.1:p.Ile1620Val
XM_017023616.1:c.4729A>G XP_016879105.1:p.Ile1577Val
XM_017023617.1:c.4825A>G XP_016879106.1:p.Ile1609Val
XM_017023618.1:c.3571A>G XP_016879107.1:p.Ile1191Val
XM_024450413.1:c.4660A>G XP_024306181.1:p.Ile1554Val