Canonical Allele Identifier: CA16615094
Community Standard Title: NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079412T>C , CM000678.2:g.2079412T>C GRCh38
NC_000016.9:g.2129413T>C , CM000678.1:g.2129413T>C GRCh37
NC_000016.8:g.2069414T>C NCBI36
NG_005895.1:g.35107T>C , LRG_487:g.35107T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3268T>C MANE Select NP_000539.2:p.Ser1090Pro
ENST00000219476.9:c.3268T>C MANE Select ENSP00000219476.3:p.Ser1090Pro
NM_000548.3:c.3268T>C , LRG_487t1:c.3268T>C NP_000539.2:p.Ser1090Pro
NM_000548.4:c.3268T>C NP_000539.2:p.Ser1090Pro
NM_001077183.1:c.3136T>C NP_001070651.1:p.Ser1046Pro
NM_001077183.2:c.3136T>C NP_001070651.1:p.Ser1046Pro
NM_001077183.3:c.3136T>C NP_001070651.1:p.Ser1046Pro
NM_001114382.1:c.3268T>C NP_001107854.1:p.Ser1090Pro
NM_001114382.2:c.3268T>C NP_001107854.1:p.Ser1090Pro
NM_001114382.3:c.3268T>C NP_001107854.1:p.Ser1090Pro
NM_001318827.1:c.3028T>C NP_001305756.1:p.Ser1010Pro
NM_001318827.2:c.3028T>C NP_001305756.1:p.Ser1010Pro
NM_001318829.1:c.2992T>C NP_001305758.1:p.Ser998Pro
NM_001318829.2:c.2992T>C NP_001305758.1:p.Ser998Pro
NM_001318831.1:c.2536T>C NP_001305760.1:p.Ser846Pro
NM_001318831.2:c.2536T>C NP_001305760.1:p.Ser846Pro
NM_001318832.1:c.3169T>C NP_001305761.1:p.Ser1057Pro
NM_001318832.2:c.3169T>C NP_001305761.1:p.Ser1057Pro
NM_001363528.1:c.3139T>C NP_001350457.1:p.Ser1047Pro
NM_001363528.2:c.3139T>C NP_001350457.1:p.Ser1047Pro
NM_001370404.1:c.3136T>C NP_001357333.1:p.Ser1046Pro
NM_001370405.1:c.3139T>C NP_001357334.1:p.Ser1047Pro
NM_021055.2:c.3139T>C NP_066399.2:p.Ser1047Pro
NM_021055.3:c.3139T>C NP_066399.2:p.Ser1047Pro
ENST00000219476.7:c.3268T>C ENSP00000219476.3:p.Ser1090Pro
ENST00000350773.8:c.3268T>C ENSP00000344383.4:p.Ser1090Pro
ENST00000350773.9:c.3268T>C ENSP00000344383.4:p.Ser1090Pro
ENST00000382538.10:c.2992T>C ENSP00000371978.6:p.Ser998Pro
ENST00000401874.6:c.3136T>C ENSP00000384468.2:p.Ser1046Pro
ENST00000401874.7:c.3136T>C ENSP00000384468.2:p.Ser1046Pro
ENST00000439117.6:c.*2435T>C ENSP00000406980.2:n.*2435T>C
ENST00000439673.6:c.3028T>C ENSP00000399232.2:p.Ser1010Pro
ENST00000471143.5:c.494T>C
ENST00000471143.6:c.496T>C ENSP00000458541.2:n.496T>C
ENST00000483020.5:c.508T>C ENSP00000460310.1:n.508T>C
ENST00000497886.5:n.1095T>C
ENST00000561695.1:n.493T>C
ENST00000568366.5:n.625T>C
ENST00000568454.5:c.3169T>C ENSP00000454487.1:p.Ser1057Pro
ENST00000568454.6:c.3169T>C ENSP00000454487.1:p.Ser1057Pro
ENST00000568566.6:c.*1686T>C ENSP00000455997.2:n.*1686T>C
ENST00000642206.2:c.3184T>C ENSP00000495146.2:p.Ser1062Pro
ENST00000642365.1:c.1922T>C
ENST00000642365.2:c.3265T>C ENSP00000495459.2:p.Ser1089Pro
ENST00000642561.1:c.3139T>C ENSP00000495099.1:p.Ser1047Pro
ENST00000642797.1:c.3139T>C ENSP00000493846.1:p.Ser1047Pro
ENST00000642936.1:c.3136T>C ENSP00000494514.1:p.Ser1046Pro
ENST00000643088.1:c.3136T>C ENSP00000494747.1:p.Ser1046Pro
ENST00000643946.1:c.3268T>C ENSP00000495927.1:p.Ser1090Pro
ENST00000644043.1:c.3139T>C ENSP00000496262.1:p.Ser1047Pro
ENST00000644329.1:c.3136T>C ENSP00000496611.1:p.Ser1046Pro
ENST00000644335.1:c.3139T>C ENSP00000496317.1:p.Ser1047Pro
ENST00000644399.1:c.3258T>C
ENST00000644417.2:c.*3717T>C ENSP00000493912.2:n.*3717T>C
ENST00000644722.1:n.414T>C
ENST00000645024.1:n.1421T>C
ENST00000646388.1:c.3268T>C ENSP00000495921.1:p.Ser1090Pro
ENST00000646464.2:c.*4190T>C ENSP00000496610.2:n.*4190T>C
ENST00000646634.1:n.2152T>C
ENST00000647042.1:n.560T>C
XM_005255529.3:c.3139T>C XP_005255586.2:p.Ser1047Pro
XM_005255531.3:c.3139T>C XP_005255588.2:p.Ser1047Pro
XM_005255531.4:c.3139T>C XP_005255588.2:p.Ser1047Pro
XM_011522636.1:c.3268T>C XP_011520938.1:p.Ser1090Pro
XM_011522636.2:c.3268T>C XP_011520938.1:p.Ser1090Pro
XM_011522637.1:c.3265T>C XP_011520939.1:p.Ser1089Pro
XM_011522637.2:c.3265T>C XP_011520939.1:p.Ser1089Pro
XM_011522638.1:c.3157T>C XP_011520940.1:p.Ser1053Pro
XM_011522638.2:c.3430T>C XP_011520940.2:p.Ser1144Pro
XM_011522639.1:c.3139T>C XP_011520941.1:p.Ser1047Pro
XM_011522639.2:c.3139T>C XP_011520941.1:p.Ser1047Pro
XM_011522640.1:c.3136T>C XP_011520942.1:p.Ser1046Pro
XM_011522640.2:c.3136T>C XP_011520942.1:p.Ser1046Pro
XM_011522641.1:c.3028T>C XP_011520943.1:p.Ser1010Pro
XM_017023615.1:c.3265T>C XP_016879104.1:p.Ser1089Pro
XM_017023616.1:c.3136T>C XP_016879105.1:p.Ser1046Pro
XM_017023617.1:c.3301T>C XP_016879106.1:p.Ser1101Pro
XM_017023618.1:c.1924T>C XP_016879107.1:p.Ser642Pro
XM_024450413.1:c.3136T>C XP_024306181.1:p.Ser1046Pro