Canonical Allele Identifier: CA394312100
Community Standard Title: NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088069C>A , CM000678.2:g.2088069C>A GRCh38
NC_000016.9:g.2138070C>A , CM000678.1:g.2138070C>A GRCh37
NC_000016.8:g.2078071C>A NCBI36
NG_005895.1:g.43764C>A , LRG_487:g.43764C>A
NG_008617.1:g.55152G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5090C>A MANE Select NP_000539.2:p.Thr1697Asn
ENST00000219476.9:c.5090C>A MANE Select ENSP00000219476.3:p.Thr1697Asn
NM_000548.3:c.5090C>A , LRG_487t1:c.5090C>A NP_000539.2:p.Thr1697Asn
NM_000548.4:c.5090C>A NP_000539.2:p.Thr1697Asn
NM_001077183.1:c.4889C>A NP_001070651.1:p.Thr1630Asn
NM_001077183.2:c.4889C>A NP_001070651.1:p.Thr1630Asn
NM_001077183.3:c.4889C>A NP_001070651.1:p.Thr1630Asn
NM_001114382.1:c.5021C>A NP_001107854.1:p.Thr1674Asn
NM_001114382.2:c.5021C>A NP_001107854.1:p.Thr1674Asn
NM_001114382.3:c.5021C>A NP_001107854.1:p.Thr1674Asn
NM_001318827.1:c.4781C>A NP_001305756.1:p.Thr1594Asn
NM_001318827.2:c.4781C>A NP_001305756.1:p.Thr1594Asn
NM_001318829.1:c.4745C>A NP_001305758.1:p.Thr1582Asn
NM_001318829.2:c.4745C>A NP_001305758.1:p.Thr1582Asn
NM_001318831.1:c.4358C>A NP_001305760.1:p.Thr1453Asn
NM_001318831.2:c.4358C>A NP_001305760.1:p.Thr1453Asn
NM_001318832.1:c.4922C>A NP_001305761.1:p.Thr1641Asn
NM_001318832.2:c.4922C>A NP_001305761.1:p.Thr1641Asn
NM_001363528.1:c.4892C>A NP_001350457.1:p.Thr1631Asn
NM_001363528.2:c.4892C>A NP_001350457.1:p.Thr1631Asn
NM_001370404.1:c.4958C>A NP_001357333.1:p.Thr1653Asn
NM_001370405.1:c.4961C>A NP_001357334.1:p.Thr1654Asn
NM_021055.2:c.4961C>A NP_066399.2:p.Thr1654Asn
NM_021055.3:c.4961C>A NP_066399.2:p.Thr1654Asn
ENST00000219476.7:c.5090C>A ENSP00000219476.3:p.Thr1697Asn
ENST00000350773.8:c.5021C>A ENSP00000344383.4:p.Thr1674Asn
ENST00000350773.9:c.5021C>A ENSP00000344383.4:p.Thr1674Asn
ENST00000382538.10:c.4745C>A ENSP00000371978.6:p.Thr1582Asn
ENST00000401874.6:c.4889C>A ENSP00000384468.2:p.Thr1630Asn
ENST00000401874.7:c.4889C>A ENSP00000384468.2:p.Thr1630Asn
ENST00000439117.6:c.*4257C>A ENSP00000406980.2:n.*4257C>A
ENST00000439673.6:c.4781C>A ENSP00000399232.2:p.Thr1594Asn
ENST00000497886.5:n.2813C>A
ENST00000568454.5:c.4922C>A ENSP00000454487.1:p.Thr1641Asn
ENST00000568454.6:c.4922C>A ENSP00000454487.1:p.Thr1641Asn
ENST00000568566.6:c.*3439C>A ENSP00000455997.2:n.*3439C>A
ENST00000569110.1:c.1272C>A
ENST00000569110.2:c.1313C>A
ENST00000569930.1:n.2205C>A
ENST00000569930.2:n.2972C>A
ENST00000642206.2:c.4937C>A ENSP00000495146.2:p.Thr1646Asn
ENST00000642365.1:c.3744C>A
ENST00000642365.2:c.5087C>A ENSP00000495459.2:p.Thr1696Asn
ENST00000642561.1:c.4961C>A ENSP00000495099.1:p.Thr1654Asn
ENST00000642791.1:n.687C>A
ENST00000642797.1:c.4892C>A ENSP00000493846.1:p.Thr1631Asn
ENST00000642936.1:c.4958C>A ENSP00000494514.1:p.Thr1653Asn
ENST00000643088.1:c.4883C>A ENSP00000494747.1:p.Thr1628Asn
ENST00000643426.1:n.2738C>A
ENST00000643946.1:c.5015C>A ENSP00000495927.1:p.Thr1672Asn
ENST00000644043.1:c.4961C>A ENSP00000496262.1:p.Thr1654Asn
ENST00000644329.1:c.4889C>A ENSP00000496611.1:p.Thr1630Asn
ENST00000644335.1:c.4886C>A ENSP00000496317.1:p.Thr1629Asn
ENST00000644399.1:c.5011C>A
ENST00000644417.2:c.*5603C>A ENSP00000493912.2:n.*5603C>A
ENST00000645024.1:n.3174C>A
ENST00000646388.1:c.5084C>A ENSP00000495921.1:p.Thr1695Asn
ENST00000646464.2:c.*7839C>A ENSP00000496610.2:n.*7839C>A
ENST00000646634.1:n.3905C>A
ENST00000646674.1:n.2342C>A
ENST00000647042.1:n.2313C>A
ENST00000647180.1:n.2203C>A
XM_005255529.3:c.4961C>A XP_005255586.2:p.Thr1654Asn
XM_005255531.3:c.4892C>A XP_005255588.2:p.Thr1631Asn
XM_005255531.4:c.4892C>A XP_005255588.2:p.Thr1631Asn
XM_011522636.1:c.5144C>A XP_011520938.1:p.Thr1715Asn
XM_011522636.2:c.5144C>A XP_011520938.1:p.Thr1715Asn
XM_011522637.1:c.5141C>A XP_011520939.1:p.Thr1714Asn
XM_011522637.2:c.5141C>A XP_011520939.1:p.Thr1714Asn
XM_011522638.1:c.5033C>A XP_011520940.1:p.Thr1678Asn
XM_011522638.2:c.5306C>A XP_011520940.2:p.Thr1769Asn
XM_011522639.1:c.5015C>A XP_011520941.1:p.Thr1672Asn
XM_011522639.2:c.5015C>A XP_011520941.1:p.Thr1672Asn
XM_011522640.1:c.5012C>A XP_011520942.1:p.Thr1671Asn
XM_011522640.2:c.5012C>A XP_011520942.1:p.Thr1671Asn
XM_011522641.1:c.4781C>A XP_011520943.1:p.Thr1594Asn
XM_017023615.1:c.5087C>A XP_016879104.1:p.Thr1696Asn
XM_017023616.1:c.4958C>A XP_016879105.1:p.Thr1653Asn
XM_017023617.1:c.5054C>A XP_016879106.1:p.Thr1685Asn
XM_017023618.1:c.3800C>A XP_016879107.1:p.Thr1267Asn
XM_024450413.1:c.4889C>A XP_024306181.1:p.Thr1630Asn