Canonical Allele Identifier: CA394315884
Community Standard Title: NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088553G>C , CM000678.2:g.2088553G>C GRCh38
NC_000016.9:g.2138554G>C , CM000678.1:g.2138554G>C GRCh37
NC_000016.8:g.2078555G>C NCBI36
NG_005895.1:g.44248G>C , LRG_487:g.44248G>C
NG_008617.1:g.54668C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5367G>C MANE Select NP_000539.2:p.Glu1789Asp
ENST00000219476.9:c.5367G>C MANE Select ENSP00000219476.3:p.Glu1789Asp
NM_000548.3:c.5367G>C , LRG_487t1:c.5367G>C NP_000539.2:p.Glu1789Asp
NM_000548.4:c.5367G>C NP_000539.2:p.Glu1789Asp
NM_001077183.1:c.5166G>C NP_001070651.1:p.Glu1722Asp
NM_001077183.2:c.5166G>C NP_001070651.1:p.Glu1722Asp
NM_001077183.3:c.5166G>C NP_001070651.1:p.Glu1722Asp
NM_001114382.1:c.5298G>C NP_001107854.1:p.Glu1766Asp
NM_001114382.2:c.5298G>C NP_001107854.1:p.Glu1766Asp
NM_001114382.3:c.5298G>C NP_001107854.1:p.Glu1766Asp
NM_001318827.1:c.5058G>C NP_001305756.1:p.Glu1686Asp
NM_001318827.2:c.5058G>C NP_001305756.1:p.Glu1686Asp
NM_001318829.1:c.5022G>C NP_001305758.1:p.Glu1674Asp
NM_001318829.2:c.5022G>C NP_001305758.1:p.Glu1674Asp
NM_001318831.1:c.4635G>C NP_001305760.1:p.Glu1545Asp
NM_001318831.2:c.4635G>C NP_001305760.1:p.Glu1545Asp
NM_001318832.1:c.5199G>C NP_001305761.1:p.Glu1733Asp
NM_001318832.2:c.5199G>C NP_001305761.1:p.Glu1733Asp
NM_001363528.1:c.5169G>C NP_001350457.1:p.Glu1723Asp
NM_001363528.2:c.5169G>C NP_001350457.1:p.Glu1723Asp
NM_001370404.1:c.5235G>C NP_001357333.1:p.Glu1745Asp
NM_001370405.1:c.5226G>C NP_001357334.1:p.Glu1742Asp
NM_021055.2:c.5238G>C NP_066399.2:p.Glu1746Asp
NM_021055.3:c.5238G>C NP_066399.2:p.Glu1746Asp
ENST00000219476.7:c.5367G>C ENSP00000219476.3:p.Glu1789Asp
ENST00000350773.8:c.5298G>C ENSP00000344383.4:p.Glu1766Asp
ENST00000350773.9:c.5298G>C ENSP00000344383.4:p.Glu1766Asp
ENST00000382538.10:c.5022G>C ENSP00000371978.6:p.Glu1674Asp
ENST00000401874.6:c.5166G>C ENSP00000384468.2:p.Glu1722Asp
ENST00000401874.7:c.5166G>C ENSP00000384468.2:p.Glu1722Asp
ENST00000439117.6:c.*4534G>C ENSP00000406980.2:n.*4534G>C
ENST00000439673.6:c.5058G>C ENSP00000399232.2:p.Glu1686Asp
ENST00000497886.5:n.3090G>C
ENST00000568454.5:c.5199G>C ENSP00000454487.1:p.Glu1733Asp
ENST00000568454.6:c.5199G>C ENSP00000454487.1:p.Glu1733Asp
ENST00000568566.6:c.*3716G>C ENSP00000455997.2:n.*3716G>C
ENST00000569110.1:c.1549G>C
ENST00000569110.2:c.1590G>C
ENST00000569930.1:n.2482G>C
ENST00000569930.2:n.3249G>C
ENST00000642206.2:c.5214G>C ENSP00000495146.2:p.Glu1738Asp
ENST00000642365.1:c.4021G>C
ENST00000642365.2:c.5364G>C ENSP00000495459.2:p.Glu1788Asp
ENST00000642561.1:c.5226G>C ENSP00000495099.1:p.Glu1742Asp
ENST00000642791.1:n.964G>C
ENST00000642797.1:c.5169G>C ENSP00000493846.1:p.Glu1723Asp
ENST00000642936.1:c.5235G>C ENSP00000494514.1:p.Glu1745Asp
ENST00000643088.1:c.5160G>C ENSP00000494747.1:p.Glu1720Asp
ENST00000643426.1:n.3015G>C
ENST00000643946.1:c.5292G>C ENSP00000495927.1:p.Glu1764Asp
ENST00000644043.1:c.5238G>C ENSP00000496262.1:p.Glu1746Asp
ENST00000644329.1:c.5253G>C ENSP00000496611.1:p.Glu1751Asp
ENST00000644335.1:c.5163G>C ENSP00000496317.1:p.Glu1721Asp
ENST00000644399.1:c.5288G>C
ENST00000644417.2:c.*5880G>C ENSP00000493912.2:n.*5880G>C
ENST00000645024.1:n.3451G>C
ENST00000646388.1:c.5361G>C ENSP00000495921.1:p.Glu1787Asp
ENST00000646464.2:c.*8116G>C ENSP00000496610.2:n.*8116G>C
ENST00000646634.1:n.4182G>C
ENST00000646674.1:n.2619G>C
ENST00000647042.1:n.2590G>C
ENST00000647180.1:n.2480G>C
XM_005255529.3:c.5238G>C XP_005255586.2:p.Glu1746Asp
XM_005255531.3:c.5169G>C XP_005255588.2:p.Glu1723Asp
XM_005255531.4:c.5169G>C XP_005255588.2:p.Glu1723Asp
XM_011522636.1:c.5421G>C XP_011520938.1:p.Glu1807Asp
XM_011522636.2:c.5421G>C XP_011520938.1:p.Glu1807Asp
XM_011522637.1:c.5418G>C XP_011520939.1:p.Glu1806Asp
XM_011522637.2:c.5418G>C XP_011520939.1:p.Glu1806Asp
XM_011522638.1:c.5310G>C XP_011520940.1:p.Glu1770Asp
XM_011522638.2:c.5583G>C XP_011520940.2:p.Glu1861Asp
XM_011522639.1:c.5292G>C XP_011520941.1:p.Glu1764Asp
XM_011522639.2:c.5292G>C XP_011520941.1:p.Glu1764Asp
XM_011522640.1:c.5289G>C XP_011520942.1:p.Glu1763Asp
XM_011522640.2:c.5289G>C XP_011520942.1:p.Glu1763Asp
XM_011522641.1:c.5058G>C XP_011520943.1:p.Glu1686Asp
XM_017023615.1:c.5364G>C XP_016879104.1:p.Glu1788Asp
XM_017023616.1:c.5235G>C XP_016879105.1:p.Glu1745Asp
XM_017023617.1:c.5331G>C XP_016879106.1:p.Glu1777Asp
XM_017023618.1:c.4077G>C XP_016879107.1:p.Glu1359Asp
XM_024450413.1:c.5253G>C XP_024306181.1:p.Glu1751Asp