Canonical Allele Identifier: CA394311288
Community Standard Title: NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2087902G>A , CM000678.2:g.2087902G>A GRCh38
NC_000016.9:g.2137903G>A , CM000678.1:g.2137903G>A GRCh37
NC_000016.8:g.2077904G>A NCBI36
NG_005895.1:g.43597G>A , LRG_487:g.43597G>A
NG_008617.1:g.55319C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5029G>A MANE Select NP_000539.2:p.Asp1677Asn
ENST00000219476.9:c.5029G>A MANE Select ENSP00000219476.3:p.Asp1677Asn
NM_000548.3:c.5029G>A , LRG_487t1:c.5029G>A NP_000539.2:p.Asp1677Asn
NM_000548.4:c.5029G>A NP_000539.2:p.Asp1677Asn
NM_001077183.1:c.4828G>A NP_001070651.1:p.Asp1610Asn
NM_001077183.2:c.4828G>A NP_001070651.1:p.Asp1610Asn
NM_001077183.3:c.4828G>A NP_001070651.1:p.Asp1610Asn
NM_001114382.1:c.4960G>A NP_001107854.1:p.Asp1654Asn
NM_001114382.2:c.4960G>A NP_001107854.1:p.Asp1654Asn
NM_001114382.3:c.4960G>A NP_001107854.1:p.Asp1654Asn
NM_001318827.1:c.4720G>A NP_001305756.1:p.Asp1574Asn
NM_001318827.2:c.4720G>A NP_001305756.1:p.Asp1574Asn
NM_001318829.1:c.4684G>A NP_001305758.1:p.Asp1562Asn
NM_001318829.2:c.4684G>A NP_001305758.1:p.Asp1562Asn
NM_001318831.1:c.4297G>A NP_001305760.1:p.Asp1433Asn
NM_001318831.2:c.4297G>A NP_001305760.1:p.Asp1433Asn
NM_001318832.1:c.4861G>A NP_001305761.1:p.Asp1621Asn
NM_001318832.2:c.4861G>A NP_001305761.1:p.Asp1621Asn
NM_001363528.1:c.4831G>A NP_001350457.1:p.Asp1611Asn
NM_001363528.2:c.4831G>A NP_001350457.1:p.Asp1611Asn
NM_001370404.1:c.4897G>A NP_001357333.1:p.Asp1633Asn
NM_001370405.1:c.4900G>A NP_001357334.1:p.Asp1634Asn
NM_021055.2:c.4900G>A NP_066399.2:p.Asp1634Asn
NM_021055.3:c.4900G>A NP_066399.2:p.Asp1634Asn
ENST00000219476.7:c.5029G>A ENSP00000219476.3:p.Asp1677Asn
ENST00000350773.8:c.4960G>A ENSP00000344383.4:p.Asp1654Asn
ENST00000350773.9:c.4960G>A ENSP00000344383.4:p.Asp1654Asn
ENST00000382538.10:c.4684G>A ENSP00000371978.6:p.Asp1562Asn
ENST00000401874.6:c.4828G>A ENSP00000384468.2:p.Asp1610Asn
ENST00000401874.7:c.4828G>A ENSP00000384468.2:p.Asp1610Asn
ENST00000439117.6:c.*4196G>A ENSP00000406980.2:n.*4196G>A
ENST00000439673.6:c.4720G>A ENSP00000399232.2:p.Asp1574Asn
ENST00000497886.5:n.2752G>A
ENST00000568454.5:c.4861G>A ENSP00000454487.1:p.Asp1621Asn
ENST00000568454.6:c.4861G>A ENSP00000454487.1:p.Asp1621Asn
ENST00000568566.6:c.*3378G>A ENSP00000455997.2:n.*3378G>A
ENST00000569110.1:c.1211G>A
ENST00000569110.2:c.1252G>A
ENST00000569930.1:n.2144G>A
ENST00000569930.2:n.2911G>A
ENST00000642206.2:c.4876G>A ENSP00000495146.2:p.Asp1626Asn
ENST00000642365.1:c.3683G>A
ENST00000642365.2:c.5026G>A ENSP00000495459.2:p.Asp1676Asn
ENST00000642561.1:c.4900G>A ENSP00000495099.1:p.Asp1634Asn
ENST00000642791.1:n.626G>A
ENST00000642797.1:c.4831G>A ENSP00000493846.1:p.Asp1611Asn
ENST00000642936.1:c.4897G>A ENSP00000494514.1:p.Asp1633Asn
ENST00000643088.1:c.4822G>A ENSP00000494747.1:p.Asp1608Asn
ENST00000643177.1:n.1043G>A
ENST00000643426.1:n.2677G>A
ENST00000643946.1:c.4954G>A ENSP00000495927.1:p.Asp1652Asn
ENST00000644043.1:c.4900G>A ENSP00000496262.1:p.Asp1634Asn
ENST00000644278.1:n.511G>A
ENST00000644329.1:c.4828G>A ENSP00000496611.1:p.Asp1610Asn
ENST00000644335.1:c.4825G>A ENSP00000496317.1:p.Asp1609Asn
ENST00000644399.1:c.4950G>A
ENST00000644417.2:c.*5542G>A ENSP00000493912.2:n.*5542G>A
ENST00000645024.1:n.3113G>A
ENST00000646388.1:c.5023G>A ENSP00000495921.1:p.Asp1675Asn
ENST00000646464.2:c.*7778G>A ENSP00000496610.2:n.*7778G>A
ENST00000646634.1:n.3844G>A
ENST00000646674.1:n.2281G>A
ENST00000647042.1:n.2252G>A
ENST00000647180.1:n.2142G>A
XM_005255529.3:c.4900G>A XP_005255586.2:p.Asp1634Asn
XM_005255531.3:c.4831G>A XP_005255588.2:p.Asp1611Asn
XM_005255531.4:c.4831G>A XP_005255588.2:p.Asp1611Asn
XM_011522636.1:c.5083G>A XP_011520938.1:p.Asp1695Asn
XM_011522636.2:c.5083G>A XP_011520938.1:p.Asp1695Asn
XM_011522637.1:c.5080G>A XP_011520939.1:p.Asp1694Asn
XM_011522637.2:c.5080G>A XP_011520939.1:p.Asp1694Asn
XM_011522638.1:c.4972G>A XP_011520940.1:p.Asp1658Asn
XM_011522638.2:c.5245G>A XP_011520940.2:p.Asp1749Asn
XM_011522639.1:c.4954G>A XP_011520941.1:p.Asp1652Asn
XM_011522639.2:c.4954G>A XP_011520941.1:p.Asp1652Asn
XM_011522640.1:c.4951G>A XP_011520942.1:p.Asp1651Asn
XM_011522640.2:c.4951G>A XP_011520942.1:p.Asp1651Asn
XM_011522641.1:c.4720G>A XP_011520943.1:p.Asp1574Asn
XM_017023615.1:c.5026G>A XP_016879104.1:p.Asp1676Asn
XM_017023616.1:c.4897G>A XP_016879105.1:p.Asp1633Asn
XM_017023617.1:c.4993G>A XP_016879106.1:p.Asp1665Asn
XM_017023618.1:c.3739G>A XP_016879107.1:p.Asp1247Asn
XM_024450413.1:c.4828G>A XP_024306181.1:p.Asp1610Asn