Canonical Allele Identifier: CA394299699
Community Standard Title: NM_000548.5(TSC2):c.4157G>A (p.Ser1386Asn)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084379G>A , CM000678.2:g.2084379G>A GRCh38
NC_000016.9:g.2134380G>A , CM000678.1:g.2134380G>A GRCh37
NC_000016.8:g.2074381G>A NCBI36
NG_005895.1:g.40074G>A , LRG_487:g.40074G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4157G>A MANE Select NP_000539.2:p.Ser1386Asn
ENST00000219476.9:c.4157G>A MANE Select ENSP00000219476.3:p.Ser1386Asn
NM_000548.3:c.4157G>A , LRG_487t1:c.4157G>A NP_000539.2:p.Ser1386Asn
NM_000548.4:c.4157G>A NP_000539.2:p.Ser1386Asn
NM_001077183.1:c.3956G>A NP_001070651.1:p.Ser1319Asn
NM_001077183.2:c.3956G>A NP_001070651.1:p.Ser1319Asn
NM_001077183.3:c.3956G>A NP_001070651.1:p.Ser1319Asn
NM_001114382.1:c.4088G>A NP_001107854.1:p.Ser1363Asn
NM_001114382.2:c.4088G>A NP_001107854.1:p.Ser1363Asn
NM_001114382.3:c.4088G>A NP_001107854.1:p.Ser1363Asn
NM_001318827.1:c.3848G>A NP_001305756.1:p.Ser1283Asn
NM_001318827.2:c.3848G>A NP_001305756.1:p.Ser1283Asn
NM_001318829.1:c.3812G>A NP_001305758.1:p.Ser1271Asn
NM_001318829.2:c.3812G>A NP_001305758.1:p.Ser1271Asn
NM_001318831.1:c.3425G>A NP_001305760.1:p.Ser1142Asn
NM_001318831.2:c.3425G>A NP_001305760.1:p.Ser1142Asn
NM_001318832.1:c.3989G>A NP_001305761.1:p.Ser1330Asn
NM_001318832.2:c.3989G>A NP_001305761.1:p.Ser1330Asn
NM_001363528.1:c.3959G>A NP_001350457.1:p.Ser1320Asn
NM_001363528.2:c.3959G>A NP_001350457.1:p.Ser1320Asn
NM_001370404.1:c.4025G>A NP_001357333.1:p.Ser1342Asn
NM_001370405.1:c.4028G>A NP_001357334.1:p.Ser1343Asn
NM_021055.2:c.4028G>A NP_066399.2:p.Ser1343Asn
NM_021055.3:c.4028G>A NP_066399.2:p.Ser1343Asn
ENST00000219476.7:c.4157G>A ENSP00000219476.3:p.Ser1386Asn
ENST00000350773.8:c.4088G>A ENSP00000344383.4:p.Ser1363Asn
ENST00000350773.9:c.4088G>A ENSP00000344383.4:p.Ser1363Asn
ENST00000382538.10:c.3812G>A ENSP00000371978.6:p.Ser1271Asn
ENST00000401874.6:c.3956G>A ENSP00000384468.2:p.Ser1319Asn
ENST00000401874.7:c.3956G>A ENSP00000384468.2:p.Ser1319Asn
ENST00000439117.6:c.*3324G>A ENSP00000406980.2:n.*3324G>A
ENST00000439673.6:c.3848G>A ENSP00000399232.2:p.Ser1283Asn
ENST00000497886.5:n.1915G>A
ENST00000568454.5:c.3989G>A ENSP00000454487.1:p.Ser1330Asn
ENST00000568454.6:c.3989G>A ENSP00000454487.1:p.Ser1330Asn
ENST00000568566.6:c.*2506G>A ENSP00000455997.2:n.*2506G>A
ENST00000569110.1:c.339G>A
ENST00000569110.2:c.393G>A
ENST00000569930.1:n.1272G>A
ENST00000569930.2:n.2039G>A
ENST00000642206.2:c.4004G>A ENSP00000495146.2:p.Ser1335Asn
ENST00000642365.1:c.2811G>A
ENST00000642365.2:c.4154G>A ENSP00000495459.2:p.Ser1385Asn
ENST00000642561.1:c.4028G>A ENSP00000495099.1:p.Ser1343Asn
ENST00000642728.1:n.339G>A
ENST00000642797.1:c.3959G>A ENSP00000493846.1:p.Ser1320Asn
ENST00000642936.1:c.4025G>A ENSP00000494514.1:p.Ser1342Asn
ENST00000643088.1:c.3956G>A ENSP00000494747.1:p.Ser1319Asn
ENST00000643177.1:n.171G>A
ENST00000643426.1:n.1805G>A
ENST00000643946.1:c.4088G>A ENSP00000495927.1:p.Ser1363Asn
ENST00000644043.1:c.4028G>A ENSP00000496262.1:p.Ser1343Asn
ENST00000644329.1:c.3956G>A ENSP00000496611.1:p.Ser1319Asn
ENST00000644335.1:c.3959G>A ENSP00000496317.1:p.Ser1320Asn
ENST00000644399.1:c.4078G>A
ENST00000644417.2:c.*4537G>A ENSP00000493912.2:n.*4537G>A
ENST00000645024.1:n.2241G>A
ENST00000645186.1:c.400G>A
ENST00000646388.1:c.4157G>A ENSP00000495921.1:p.Ser1386Asn
ENST00000646464.2:c.*6906G>A ENSP00000496610.2:n.*6906G>A
ENST00000646634.1:n.2972G>A
ENST00000646674.1:n.1409G>A
ENST00000647042.1:n.1380G>A
ENST00000647180.1:n.1270G>A
XM_005255529.3:c.4028G>A XP_005255586.2:p.Ser1343Asn
XM_005255531.3:c.3959G>A XP_005255588.2:p.Ser1320Asn
XM_005255531.4:c.3959G>A XP_005255588.2:p.Ser1320Asn
XM_011522636.1:c.4211G>A XP_011520938.1:p.Ser1404Asn
XM_011522636.2:c.4211G>A XP_011520938.1:p.Ser1404Asn
XM_011522637.1:c.4208G>A XP_011520939.1:p.Ser1403Asn
XM_011522637.2:c.4208G>A XP_011520939.1:p.Ser1403Asn
XM_011522638.1:c.4100G>A XP_011520940.1:p.Ser1367Asn
XM_011522638.2:c.4373G>A XP_011520940.2:p.Ser1458Asn
XM_011522639.1:c.4082G>A XP_011520941.1:p.Ser1361Asn
XM_011522639.2:c.4082G>A XP_011520941.1:p.Ser1361Asn
XM_011522640.1:c.4079G>A XP_011520942.1:p.Ser1360Asn
XM_011522640.2:c.4079G>A XP_011520942.1:p.Ser1360Asn
XM_011522641.1:c.3848G>A XP_011520943.1:p.Ser1283Asn
XM_017023615.1:c.4154G>A XP_016879104.1:p.Ser1385Asn
XM_017023616.1:c.4025G>A XP_016879105.1:p.Ser1342Asn
XM_017023617.1:c.4121G>A XP_016879106.1:p.Ser1374Asn
XM_017023618.1:c.2867G>A XP_016879107.1:p.Ser956Asn
XM_024450413.1:c.3956G>A XP_024306181.1:p.Ser1319Asn