Canonical Allele Identifier: CA10583339
Community Standard Title: NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086352T>A , CM000678.2:g.2086352T>A GRCh38
NC_000016.9:g.2136353T>A , CM000678.1:g.2136353T>A GRCh37
NC_000016.8:g.2076354T>A NCBI36
NG_005895.1:g.42047T>A , LRG_487:g.42047T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4822T>A MANE Select NP_000539.2:p.Tyr1608Asn
ENST00000219476.9:c.4822T>A MANE Select ENSP00000219476.3:p.Tyr1608Asn
NM_000548.3:c.4822T>A , LRG_487t1:c.4822T>A NP_000539.2:p.Tyr1608Asn
NM_000548.4:c.4822T>A NP_000539.2:p.Tyr1608Asn
NM_001077183.1:c.4621T>A NP_001070651.1:p.Tyr1541Asn
NM_001077183.2:c.4621T>A NP_001070651.1:p.Tyr1541Asn
NM_001077183.3:c.4621T>A NP_001070651.1:p.Tyr1541Asn
NM_001114382.1:c.4753T>A NP_001107854.1:p.Tyr1585Asn
NM_001114382.2:c.4753T>A NP_001107854.1:p.Tyr1585Asn
NM_001114382.3:c.4753T>A NP_001107854.1:p.Tyr1585Asn
NM_001318827.1:c.4513T>A NP_001305756.1:p.Tyr1505Asn
NM_001318827.2:c.4513T>A NP_001305756.1:p.Tyr1505Asn
NM_001318829.1:c.4477T>A NP_001305758.1:p.Tyr1493Asn
NM_001318829.2:c.4477T>A NP_001305758.1:p.Tyr1493Asn
NM_001318831.1:c.4090T>A NP_001305760.1:p.Tyr1364Asn
NM_001318831.2:c.4090T>A NP_001305760.1:p.Tyr1364Asn
NM_001318832.1:c.4654T>A NP_001305761.1:p.Tyr1552Asn
NM_001318832.2:c.4654T>A NP_001305761.1:p.Tyr1552Asn
NM_001363528.1:c.4624T>A NP_001350457.1:p.Tyr1542Asn
NM_001363528.2:c.4624T>A NP_001350457.1:p.Tyr1542Asn
NM_001370404.1:c.4690T>A NP_001357333.1:p.Tyr1564Asn
NM_001370405.1:c.4693T>A NP_001357334.1:p.Tyr1565Asn
NM_021055.2:c.4693T>A NP_066399.2:p.Tyr1565Asn
NM_021055.3:c.4693T>A NP_066399.2:p.Tyr1565Asn
ENST00000219476.7:c.4822T>A ENSP00000219476.3:p.Tyr1608Asn
ENST00000350773.8:c.4753T>A ENSP00000344383.4:p.Tyr1585Asn
ENST00000350773.9:c.4753T>A ENSP00000344383.4:p.Tyr1585Asn
ENST00000382538.10:c.4477T>A ENSP00000371978.6:p.Tyr1493Asn
ENST00000401874.6:c.4621T>A ENSP00000384468.2:p.Tyr1541Asn
ENST00000401874.7:c.4621T>A ENSP00000384468.2:p.Tyr1541Asn
ENST00000439117.6:c.*3989T>A ENSP00000406980.2:n.*3989T>A
ENST00000439673.6:c.4513T>A ENSP00000399232.2:p.Tyr1505Asn
ENST00000497886.5:n.2580T>A
ENST00000568454.5:c.4654T>A ENSP00000454487.1:p.Tyr1552Asn
ENST00000568454.6:c.4654T>A ENSP00000454487.1:p.Tyr1552Asn
ENST00000568566.6:c.*3171T>A ENSP00000455997.2:n.*3171T>A
ENST00000569110.1:c.1004T>A
ENST00000569110.2:c.1045T>A
ENST00000569930.1:n.1937T>A
ENST00000569930.2:n.2704T>A
ENST00000642206.2:c.4669T>A ENSP00000495146.2:p.Tyr1557Asn
ENST00000642365.1:c.3476T>A
ENST00000642365.2:c.4819T>A ENSP00000495459.2:p.Tyr1607Asn
ENST00000642561.1:c.4693T>A ENSP00000495099.1:p.Tyr1565Asn
ENST00000642728.1:n.1004T>A
ENST00000642791.1:n.419T>A
ENST00000642797.1:c.4624T>A ENSP00000493846.1:p.Tyr1542Asn
ENST00000642936.1:c.4690T>A ENSP00000494514.1:p.Tyr1564Asn
ENST00000643088.1:c.4615T>A ENSP00000494747.1:p.Tyr1539Asn
ENST00000643177.1:n.836T>A
ENST00000643426.1:n.2470T>A
ENST00000643946.1:c.4747T>A ENSP00000495927.1:p.Tyr1583Asn
ENST00000644043.1:c.4693T>A ENSP00000496262.1:p.Tyr1565Asn
ENST00000644278.1:n.304T>A
ENST00000644329.1:c.4621T>A ENSP00000496611.1:p.Tyr1541Asn
ENST00000644335.1:c.4618T>A ENSP00000496317.1:p.Tyr1540Asn
ENST00000644399.1:c.4743T>A
ENST00000644417.2:c.*5335T>A ENSP00000493912.2:n.*5335T>A
ENST00000645024.1:n.2906T>A
ENST00000646388.1:c.4816T>A ENSP00000495921.1:p.Tyr1606Asn
ENST00000646464.2:c.*7571T>A ENSP00000496610.2:n.*7571T>A
ENST00000646634.1:n.3637T>A
ENST00000646674.1:n.2074T>A
ENST00000647042.1:n.2045T>A
ENST00000647180.1:n.1935T>A
XM_005255529.3:c.4693T>A XP_005255586.2:p.Tyr1565Asn
XM_005255531.3:c.4624T>A XP_005255588.2:p.Tyr1542Asn
XM_005255531.4:c.4624T>A XP_005255588.2:p.Tyr1542Asn
XM_011522636.1:c.4876T>A XP_011520938.1:p.Tyr1626Asn
XM_011522636.2:c.4876T>A XP_011520938.1:p.Tyr1626Asn
XM_011522637.1:c.4873T>A XP_011520939.1:p.Tyr1625Asn
XM_011522637.2:c.4873T>A XP_011520939.1:p.Tyr1625Asn
XM_011522638.1:c.4765T>A XP_011520940.1:p.Tyr1589Asn
XM_011522638.2:c.5038T>A XP_011520940.2:p.Tyr1680Asn
XM_011522639.1:c.4747T>A XP_011520941.1:p.Tyr1583Asn
XM_011522639.2:c.4747T>A XP_011520941.1:p.Tyr1583Asn
XM_011522640.1:c.4744T>A XP_011520942.1:p.Tyr1582Asn
XM_011522640.2:c.4744T>A XP_011520942.1:p.Tyr1582Asn
XM_011522641.1:c.4513T>A XP_011520943.1:p.Tyr1505Asn
XM_017023615.1:c.4819T>A XP_016879104.1:p.Tyr1607Asn
XM_017023616.1:c.4690T>A XP_016879105.1:p.Tyr1564Asn
XM_017023617.1:c.4786T>A XP_016879106.1:p.Tyr1596Asn
XM_017023618.1:c.3532T>A XP_016879107.1:p.Tyr1178Asn
XM_024450413.1:c.4621T>A XP_024306181.1:p.Tyr1541Asn