Canonical Allele Identifier: CA047264
Community Standard Title: NM_000548.5(TSC2):c.3517A>G (p.Thr1173Ala)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2080284A>G , CM000678.2:g.2080284A>G GRCh38
NC_000016.9:g.2130285A>G , CM000678.1:g.2130285A>G GRCh37
NC_000016.8:g.2070286A>G NCBI36
NG_005895.1:g.35979A>G , LRG_487:g.35979A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3517A>G MANE Select NP_000539.2:p.Thr1173Ala
ENST00000219476.9:c.3517A>G MANE Select ENSP00000219476.3:p.Thr1173Ala
NM_000548.3:c.3517A>G , LRG_487t1:c.3517A>G NP_000539.2:p.Thr1173Ala
NM_000548.4:c.3517A>G NP_000539.2:p.Thr1173Ala
NM_001077183.1:c.3385A>G NP_001070651.1:p.Thr1129Ala
NM_001077183.2:c.3385A>G NP_001070651.1:p.Thr1129Ala
NM_001077183.3:c.3385A>G NP_001070651.1:p.Thr1129Ala
NM_001114382.1:c.3517A>G NP_001107854.1:p.Thr1173Ala
NM_001114382.2:c.3517A>G NP_001107854.1:p.Thr1173Ala
NM_001114382.3:c.3517A>G NP_001107854.1:p.Thr1173Ala
NM_001318827.1:c.3277A>G NP_001305756.1:p.Thr1093Ala
NM_001318827.2:c.3277A>G NP_001305756.1:p.Thr1093Ala
NM_001318829.1:c.3241A>G NP_001305758.1:p.Thr1081Ala
NM_001318829.2:c.3241A>G NP_001305758.1:p.Thr1081Ala
NM_001318831.1:c.2785A>G NP_001305760.1:p.Thr929Ala
NM_001318831.2:c.2785A>G NP_001305760.1:p.Thr929Ala
NM_001318832.1:c.3418A>G NP_001305761.1:p.Thr1140Ala
NM_001318832.2:c.3418A>G NP_001305761.1:p.Thr1140Ala
NM_001363528.1:c.3388A>G NP_001350457.1:p.Thr1130Ala
NM_001363528.2:c.3388A>G NP_001350457.1:p.Thr1130Ala
NM_001370404.1:c.3385A>G NP_001357333.1:p.Thr1129Ala
NM_001370405.1:c.3388A>G NP_001357334.1:p.Thr1130Ala
NM_021055.2:c.3388A>G NP_066399.2:p.Thr1130Ala
NM_021055.3:c.3388A>G NP_066399.2:p.Thr1130Ala
ENST00000219476.7:c.3517A>G ENSP00000219476.3:p.Thr1173Ala
ENST00000350773.8:c.3517A>G ENSP00000344383.4:p.Thr1173Ala
ENST00000350773.9:c.3517A>G ENSP00000344383.4:p.Thr1173Ala
ENST00000382538.10:c.3241A>G ENSP00000371978.6:p.Thr1081Ala
ENST00000401874.6:c.3385A>G ENSP00000384468.2:p.Thr1129Ala
ENST00000401874.7:c.3385A>G ENSP00000384468.2:p.Thr1129Ala
ENST00000439117.6:c.*2684A>G ENSP00000406980.2:n.*2684A>G
ENST00000439673.6:c.3277A>G ENSP00000399232.2:p.Thr1093Ala
ENST00000497886.5:n.1344A>G
ENST00000568454.5:c.3418A>G ENSP00000454487.1:p.Thr1140Ala
ENST00000568454.6:c.3418A>G ENSP00000454487.1:p.Thr1140Ala
ENST00000568566.6:c.*1935A>G ENSP00000455997.2:n.*1935A>G
ENST00000642206.2:c.3433A>G ENSP00000495146.2:p.Thr1145Ala
ENST00000642365.1:c.2171A>G
ENST00000642365.2:c.3514A>G ENSP00000495459.2:p.Thr1172Ala
ENST00000642561.1:c.3388A>G ENSP00000495099.1:p.Thr1130Ala
ENST00000642797.1:c.3388A>G ENSP00000493846.1:p.Thr1130Ala
ENST00000642936.1:c.3385A>G ENSP00000494514.1:p.Thr1129Ala
ENST00000643088.1:c.3385A>G ENSP00000494747.1:p.Thr1129Ala
ENST00000643946.1:c.3517A>G ENSP00000495927.1:p.Thr1173Ala
ENST00000644043.1:c.3388A>G ENSP00000496262.1:p.Thr1130Ala
ENST00000644329.1:c.3385A>G ENSP00000496611.1:p.Thr1129Ala
ENST00000644335.1:c.3388A>G ENSP00000496317.1:p.Thr1130Ala
ENST00000644399.1:c.3507A>G
ENST00000644417.2:c.*3966A>G ENSP00000493912.2:n.*3966A>G
ENST00000644722.1:n.663A>G
ENST00000645024.1:n.1670A>G
ENST00000646388.1:c.3517A>G ENSP00000495921.1:p.Thr1173Ala
ENST00000646464.2:c.*4439A>G ENSP00000496610.2:n.*4439A>G
ENST00000646634.1:n.2401A>G
ENST00000646674.1:n.132A>G
ENST00000647042.1:n.809A>G
XM_005255529.3:c.3388A>G XP_005255586.2:p.Thr1130Ala
XM_005255531.3:c.3388A>G XP_005255588.2:p.Thr1130Ala
XM_005255531.4:c.3388A>G XP_005255588.2:p.Thr1130Ala
XM_011522636.1:c.3517A>G XP_011520938.1:p.Thr1173Ala
XM_011522636.2:c.3517A>G XP_011520938.1:p.Thr1173Ala
XM_011522637.1:c.3514A>G XP_011520939.1:p.Thr1172Ala
XM_011522637.2:c.3514A>G XP_011520939.1:p.Thr1172Ala
XM_011522638.1:c.3406A>G XP_011520940.1:p.Thr1136Ala
XM_011522638.2:c.3679A>G XP_011520940.2:p.Thr1227Ala
XM_011522639.1:c.3388A>G XP_011520941.1:p.Thr1130Ala
XM_011522639.2:c.3388A>G XP_011520941.1:p.Thr1130Ala
XM_011522640.1:c.3385A>G XP_011520942.1:p.Thr1129Ala
XM_011522640.2:c.3385A>G XP_011520942.1:p.Thr1129Ala
XM_011522641.1:c.3277A>G XP_011520943.1:p.Thr1093Ala
XM_017023615.1:c.3514A>G XP_016879104.1:p.Thr1172Ala
XM_017023616.1:c.3385A>G XP_016879105.1:p.Thr1129Ala
XM_017023617.1:c.3550A>G XP_016879106.1:p.Thr1184Ala
XM_017023618.1:c.2173A>G XP_016879107.1:p.Thr725Ala
XM_024450413.1:c.3385A>G XP_024306181.1:p.Thr1129Ala