Canonical Allele Identifier: CA394302335
Community Standard Title: NM_000548.5(TSC2):c.4442A>G (p.Lys1481Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084664A>G , CM000678.2:g.2084664A>G GRCh38
NC_000016.9:g.2134665A>G , CM000678.1:g.2134665A>G GRCh37
NC_000016.8:g.2074666A>G NCBI36
NG_005895.1:g.40359A>G , LRG_487:g.40359A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4442A>G MANE Select NP_000539.2:p.Lys1481Arg
ENST00000219476.9:c.4442A>G MANE Select ENSP00000219476.3:p.Lys1481Arg
NM_000548.3:c.4442A>G , LRG_487t1:c.4442A>G NP_000539.2:p.Lys1481Arg
NM_000548.4:c.4442A>G NP_000539.2:p.Lys1481Arg
NM_001077183.1:c.4241A>G NP_001070651.1:p.Lys1414Arg
NM_001077183.2:c.4241A>G NP_001070651.1:p.Lys1414Arg
NM_001077183.3:c.4241A>G NP_001070651.1:p.Lys1414Arg
NM_001114382.1:c.4373A>G NP_001107854.1:p.Lys1458Arg
NM_001114382.2:c.4373A>G NP_001107854.1:p.Lys1458Arg
NM_001114382.3:c.4373A>G NP_001107854.1:p.Lys1458Arg
NM_001318827.1:c.4133A>G NP_001305756.1:p.Lys1378Arg
NM_001318827.2:c.4133A>G NP_001305756.1:p.Lys1378Arg
NM_001318829.1:c.4097A>G NP_001305758.1:p.Lys1366Arg
NM_001318829.2:c.4097A>G NP_001305758.1:p.Lys1366Arg
NM_001318831.1:c.3710A>G NP_001305760.1:p.Lys1237Arg
NM_001318831.2:c.3710A>G NP_001305760.1:p.Lys1237Arg
NM_001318832.1:c.4274A>G NP_001305761.1:p.Lys1425Arg
NM_001318832.2:c.4274A>G NP_001305761.1:p.Lys1425Arg
NM_001363528.1:c.4244A>G NP_001350457.1:p.Lys1415Arg
NM_001363528.2:c.4244A>G NP_001350457.1:p.Lys1415Arg
NM_001370404.1:c.4310A>G NP_001357333.1:p.Lys1437Arg
NM_001370405.1:c.4313A>G NP_001357334.1:p.Lys1438Arg
NM_021055.2:c.4313A>G NP_066399.2:p.Lys1438Arg
NM_021055.3:c.4313A>G NP_066399.2:p.Lys1438Arg
ENST00000219476.7:c.4442A>G ENSP00000219476.3:p.Lys1481Arg
ENST00000350773.8:c.4373A>G ENSP00000344383.4:p.Lys1458Arg
ENST00000350773.9:c.4373A>G ENSP00000344383.4:p.Lys1458Arg
ENST00000382538.10:c.4097A>G ENSP00000371978.6:p.Lys1366Arg
ENST00000401874.6:c.4241A>G ENSP00000384468.2:p.Lys1414Arg
ENST00000401874.7:c.4241A>G ENSP00000384468.2:p.Lys1414Arg
ENST00000439117.6:c.*3609A>G ENSP00000406980.2:n.*3609A>G
ENST00000439673.6:c.4133A>G ENSP00000399232.2:p.Lys1378Arg
ENST00000497886.5:n.2200A>G
ENST00000568454.5:c.4274A>G ENSP00000454487.1:p.Lys1425Arg
ENST00000568454.6:c.4274A>G ENSP00000454487.1:p.Lys1425Arg
ENST00000568566.6:c.*2791A>G ENSP00000455997.2:n.*2791A>G
ENST00000569110.1:c.624A>G
ENST00000569110.2:c.678A>G
ENST00000569930.1:n.1557A>G
ENST00000569930.2:n.2324A>G
ENST00000642206.2:c.4289A>G ENSP00000495146.2:p.Lys1430Arg
ENST00000642365.1:c.3096A>G
ENST00000642365.2:c.4439A>G ENSP00000495459.2:p.Lys1480Arg
ENST00000642561.1:c.4313A>G ENSP00000495099.1:p.Lys1438Arg
ENST00000642728.1:n.624A>G
ENST00000642797.1:c.4244A>G ENSP00000493846.1:p.Lys1415Arg
ENST00000642936.1:c.4310A>G ENSP00000494514.1:p.Lys1437Arg
ENST00000643088.1:c.4241A>G ENSP00000494747.1:p.Lys1414Arg
ENST00000643177.1:n.456A>G
ENST00000643426.1:n.2090A>G
ENST00000643946.1:c.4373A>G ENSP00000495927.1:p.Lys1458Arg
ENST00000644043.1:c.4313A>G ENSP00000496262.1:p.Lys1438Arg
ENST00000644329.1:c.4241A>G ENSP00000496611.1:p.Lys1414Arg
ENST00000644335.1:c.4244A>G ENSP00000496317.1:p.Lys1415Arg
ENST00000644399.1:c.4363A>G
ENST00000644417.2:c.*4822A>G ENSP00000493912.2:n.*4822A>G
ENST00000645024.1:n.2526A>G
ENST00000646388.1:c.4442A>G ENSP00000495921.1:p.Lys1481Arg
ENST00000646464.2:c.*7191A>G ENSP00000496610.2:n.*7191A>G
ENST00000646634.1:n.3257A>G
ENST00000646674.1:n.1694A>G
ENST00000647042.1:n.1665A>G
ENST00000647180.1:n.1555A>G
XM_005255529.3:c.4313A>G XP_005255586.2:p.Lys1438Arg
XM_005255531.3:c.4244A>G XP_005255588.2:p.Lys1415Arg
XM_005255531.4:c.4244A>G XP_005255588.2:p.Lys1415Arg
XM_011522636.1:c.4496A>G XP_011520938.1:p.Lys1499Arg
XM_011522636.2:c.4496A>G XP_011520938.1:p.Lys1499Arg
XM_011522637.1:c.4493A>G XP_011520939.1:p.Lys1498Arg
XM_011522637.2:c.4493A>G XP_011520939.1:p.Lys1498Arg
XM_011522638.1:c.4385A>G XP_011520940.1:p.Lys1462Arg
XM_011522638.2:c.4658A>G XP_011520940.2:p.Lys1553Arg
XM_011522639.1:c.4367A>G XP_011520941.1:p.Lys1456Arg
XM_011522639.2:c.4367A>G XP_011520941.1:p.Lys1456Arg
XM_011522640.1:c.4364A>G XP_011520942.1:p.Lys1455Arg
XM_011522640.2:c.4364A>G XP_011520942.1:p.Lys1455Arg
XM_011522641.1:c.4133A>G XP_011520943.1:p.Lys1378Arg
XM_017023615.1:c.4439A>G XP_016879104.1:p.Lys1480Arg
XM_017023616.1:c.4310A>G XP_016879105.1:p.Lys1437Arg
XM_017023617.1:c.4406A>G XP_016879106.1:p.Lys1469Arg
XM_017023618.1:c.3152A>G XP_016879107.1:p.Lys1051Arg
XM_024450413.1:c.4241A>G XP_024306181.1:p.Lys1414Arg