Canonical Allele Identifier: CA2202029111
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079362_2079363delinsTG , CM000678.2:g.2079362_2079363delinsTG GRCh38
NC_000016.9:g.2129363_2129364delinsTG , CM000678.1:g.2129363_2129364delinsTG GRCh37
NC_000016.8:g.2069364_2069365delinsTG NCBI36
NG_005895.1:g.35057_35058delinsTG , LRG_487:g.35057_35058delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1636_*1637delinsTG ENSP00000455997.2:n.*1636_*1637delinsTG
ENST00000642206.2:c.3134_3135delinsTG ENSP00000495146.2:p.Val1045=
ENST00000642365.2:c.3215_3216delinsTG ENSP00000495459.2:p.Val1072=
ENST00000644417.2:c.*3667_*3668delinsTG ENSP00000493912.2:n.*3667_*3668delinsTG
ENST00000646464.2:c.*4140_*4141delinsTG ENSP00000496610.2:n.*4140_*4141delinsTG
ENST00000219476.9:c.3218_3219delinsTG MANE Select ENSP00000219476.3:p.Val1073=
ENST00000350773.9:c.3218_3219delinsTG ENSP00000344383.4:p.Val1073=
ENST00000401874.7:c.3086_3087delinsTG ENSP00000384468.2:p.Val1029=
ENST00000471143.6:c.446_447delinsTG ENSP00000458541.2:n.446_447delinsTG
ENST00000568454.6:c.3119_3120delinsTG ENSP00000454487.1:p.Val1040=
ENST00000642365.1:c.1872_1873delinsTG
ENST00000642561.1:c.3089_3090delinsTG ENSP00000495099.1:p.Val1030=
ENST00000642797.1:c.3089_3090delinsTG ENSP00000493846.1:p.Val1030=
ENST00000642936.1:c.3086_3087delinsTG ENSP00000494514.1:p.Val1029=
ENST00000643088.1:c.3086_3087delinsTG ENSP00000494747.1:p.Val1029=
ENST00000643946.1:c.3218_3219delinsTG ENSP00000495927.1:p.Val1073=
ENST00000644043.1:c.3089_3090delinsTG ENSP00000496262.1:p.Val1030=
ENST00000644329.1:c.3086_3087delinsTG ENSP00000496611.1:p.Val1029=
ENST00000644335.1:c.3089_3090delinsTG ENSP00000496317.1:p.Val1030=
ENST00000644399.1:c.3208_3209delinsTG
ENST00000644722.1:n.364_365delinsTG
ENST00000645024.1:n.1371_1372delinsTG
ENST00000646388.1:c.3218_3219delinsTG ENSP00000495921.1:p.Val1073=
ENST00000646634.1:n.2102_2103delinsTG
ENST00000647042.1:n.510_511delinsTG
ENST00000219476.7:c.3218_3219delinsTG ENSP00000219476.3:p.Val1073=
ENST00000350773.8:c.3218_3219delinsTG ENSP00000344383.4:p.Val1073=
ENST00000382538.10:c.2942_2943delinsTG ENSP00000371978.6:p.Val981=
ENST00000401874.6:c.3086_3087delinsTG ENSP00000384468.2:p.Val1029=
ENST00000439117.6:c.*2385_*2386delinsTG ENSP00000406980.2:n.*2385_*2386delinsTG
ENST00000439673.6:c.2978_2979delinsTG ENSP00000399232.2:p.Val993=
ENST00000471143.5:c.444_445delinsTG
ENST00000483020.5:c.458_459delinsTG ENSP00000460310.1:n.458_459delinsTG
ENST00000497886.5:n.1045_1046delinsTG
ENST00000561695.1:n.443_444delinsTG
ENST00000568366.5:n.575_576delinsTG
ENST00000568454.5:c.3119_3120delinsTG ENSP00000454487.1:p.Val1040=
NM_000548.3:c.3218_3219delinsTG , LRG_487t1:c.3218_3219delinsTG NP_000539.2:p.Val1073=
NM_001077183.1:c.3086_3087delinsTG NP_001070651.1:p.Val1029=
NM_001114382.1:c.3218_3219delinsTG NP_001107854.1:p.Val1073=
XM_005255529.3:c.3089_3090delinsTG XP_005255586.2:p.Val1030=
XM_005255531.3:c.3089_3090delinsTG XP_005255588.2:p.Val1030=
XM_011522636.1:c.3218_3219delinsTG XP_011520938.1:p.Val1073=
XM_011522637.1:c.3215_3216delinsTG XP_011520939.1:p.Val1072=
XM_011522638.1:c.3107_3108delinsTG XP_011520940.1:p.Val1036=
XM_011522639.1:c.3089_3090delinsTG XP_011520941.1:p.Val1030=
XM_011522640.1:c.3086_3087delinsTG XP_011520942.1:p.Val1029=
XM_011522641.1:c.2978_2979delinsTG XP_011520943.1:p.Val993=
NM_000548.4:c.3218_3219delinsTG NP_000539.2:p.Val1073=
NM_001077183.2:c.3086_3087delinsTG NP_001070651.1:p.Val1029=
NM_001114382.2:c.3218_3219delinsTG NP_001107854.1:p.Val1073=
NM_001318827.1:c.2978_2979delinsTG NP_001305756.1:p.Val993=
NM_001318829.1:c.2942_2943delinsTG NP_001305758.1:p.Val981=
NM_001318831.1:c.2486_2487delinsTG NP_001305760.1:p.Val829=
NM_001318832.1:c.3119_3120delinsTG NP_001305761.1:p.Val1040=
NM_001363528.1:c.3089_3090delinsTG NP_001350457.1:p.Val1030=
NM_021055.2:c.3089_3090delinsTG NP_066399.2:p.Val1030=
XM_005255531.4:c.3089_3090delinsTG XP_005255588.2:p.Val1030=
XM_011522636.2:c.3218_3219delinsTG XP_011520938.1:p.Val1073=
XM_011522637.2:c.3215_3216delinsTG XP_011520939.1:p.Val1072=
XM_011522638.2:c.3380_3381delinsTG XP_011520940.2:p.Val1127=
XM_011522639.2:c.3089_3090delinsTG XP_011520941.1:p.Val1030=
XM_011522640.2:c.3086_3087delinsTG XP_011520942.1:p.Val1029=
XM_017023615.1:c.3215_3216delinsTG XP_016879104.1:p.Val1072=
XM_017023616.1:c.3086_3087delinsTG XP_016879105.1:p.Val1029=
XM_017023617.1:c.3251_3252delinsTG XP_016879106.1:p.Val1084=
XM_017023618.1:c.1874_1875delinsTG XP_016879107.1:p.Val625=
XM_024450413.1:c.3086_3087delinsTG XP_024306181.1:p.Val1029=
NM_000548.5:c.3218_3219delinsTG MANE Select NP_000539.2:p.Val1073=
NM_001370404.1:c.3086_3087delinsTG NP_001357333.1:p.Val1029=
NM_001370405.1:c.3089_3090delinsTG NP_001357334.1:p.Val1030=
NM_001077183.3:c.3086_3087delinsTG NP_001070651.1:p.Val1029=
NM_001114382.3:c.3218_3219delinsTG NP_001107854.1:p.Val1073=
NM_001318827.2:c.2978_2979delinsTG NP_001305756.1:p.Val993=
NM_001318829.2:c.2942_2943delinsTG NP_001305758.1:p.Val981=
NM_001318831.2:c.2486_2487delinsTG NP_001305760.1:p.Val829=
NM_001318832.2:c.3119_3120delinsTG NP_001305761.1:p.Val1040=
NM_001363528.2:c.3089_3090delinsTG NP_001350457.1:p.Val1030=
NM_021055.3:c.3089_3090delinsTG NP_066399.2:p.Val1030=