Canonical Allele Identifier: CA052491
Community Standard Title: NM_000548.5(TSC2):c.4810G>A (p.Gly1604Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086340G>A , CM000678.2:g.2086340G>A GRCh38
NC_000016.9:g.2136341G>A , CM000678.1:g.2136341G>A GRCh37
NC_000016.8:g.2076342G>A NCBI36
NG_005895.1:g.42035G>A , LRG_487:g.42035G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4810G>A MANE Select NP_000539.2:p.Gly1604Ser
ENST00000219476.9:c.4810G>A MANE Select ENSP00000219476.3:p.Gly1604Ser
NM_000548.3:c.4810G>A , LRG_487t1:c.4810G>A NP_000539.2:p.Gly1604Ser
NM_000548.4:c.4810G>A NP_000539.2:p.Gly1604Ser
NM_001077183.1:c.4609G>A NP_001070651.1:p.Gly1537Ser
NM_001077183.2:c.4609G>A NP_001070651.1:p.Gly1537Ser
NM_001077183.3:c.4609G>A NP_001070651.1:p.Gly1537Ser
NM_001114382.1:c.4741G>A NP_001107854.1:p.Gly1581Ser
NM_001114382.2:c.4741G>A NP_001107854.1:p.Gly1581Ser
NM_001114382.3:c.4741G>A NP_001107854.1:p.Gly1581Ser
NM_001318827.1:c.4501G>A NP_001305756.1:p.Gly1501Ser
NM_001318827.2:c.4501G>A NP_001305756.1:p.Gly1501Ser
NM_001318829.1:c.4465G>A NP_001305758.1:p.Gly1489Ser
NM_001318829.2:c.4465G>A NP_001305758.1:p.Gly1489Ser
NM_001318831.1:c.4078G>A NP_001305760.1:p.Gly1360Ser
NM_001318831.2:c.4078G>A NP_001305760.1:p.Gly1360Ser
NM_001318832.1:c.4642G>A NP_001305761.1:p.Gly1548Ser
NM_001318832.2:c.4642G>A NP_001305761.1:p.Gly1548Ser
NM_001363528.1:c.4612G>A NP_001350457.1:p.Gly1538Ser
NM_001363528.2:c.4612G>A NP_001350457.1:p.Gly1538Ser
NM_001370404.1:c.4678G>A NP_001357333.1:p.Gly1560Ser
NM_001370405.1:c.4681G>A NP_001357334.1:p.Gly1561Ser
NM_021055.2:c.4681G>A NP_066399.2:p.Gly1561Ser
NM_021055.3:c.4681G>A NP_066399.2:p.Gly1561Ser
ENST00000219476.7:c.4810G>A ENSP00000219476.3:p.Gly1604Ser
ENST00000350773.8:c.4741G>A ENSP00000344383.4:p.Gly1581Ser
ENST00000350773.9:c.4741G>A ENSP00000344383.4:p.Gly1581Ser
ENST00000382538.10:c.4465G>A ENSP00000371978.6:p.Gly1489Ser
ENST00000401874.6:c.4609G>A ENSP00000384468.2:p.Gly1537Ser
ENST00000401874.7:c.4609G>A ENSP00000384468.2:p.Gly1537Ser
ENST00000439117.6:c.*3977G>A ENSP00000406980.2:n.*3977G>A
ENST00000439673.6:c.4501G>A ENSP00000399232.2:p.Gly1501Ser
ENST00000497886.5:n.2568G>A
ENST00000568454.5:c.4642G>A ENSP00000454487.1:p.Gly1548Ser
ENST00000568454.6:c.4642G>A ENSP00000454487.1:p.Gly1548Ser
ENST00000568566.6:c.*3159G>A ENSP00000455997.2:n.*3159G>A
ENST00000569110.1:c.992G>A
ENST00000569110.2:c.1033G>A
ENST00000569930.1:n.1925G>A
ENST00000569930.2:n.2692G>A
ENST00000642206.2:c.4657G>A ENSP00000495146.2:p.Gly1553Ser
ENST00000642365.1:c.3464G>A
ENST00000642365.2:c.4807G>A ENSP00000495459.2:p.Gly1603Ser
ENST00000642561.1:c.4681G>A ENSP00000495099.1:p.Gly1561Ser
ENST00000642728.1:n.992G>A
ENST00000642791.1:n.407G>A
ENST00000642797.1:c.4612G>A ENSP00000493846.1:p.Gly1538Ser
ENST00000642936.1:c.4678G>A ENSP00000494514.1:p.Gly1560Ser
ENST00000643088.1:c.4603G>A ENSP00000494747.1:p.Gly1535Ser
ENST00000643177.1:n.824G>A
ENST00000643426.1:n.2458G>A
ENST00000643946.1:c.4735G>A ENSP00000495927.1:p.Gly1579Ser
ENST00000644043.1:c.4681G>A ENSP00000496262.1:p.Gly1561Ser
ENST00000644278.1:n.292G>A
ENST00000644329.1:c.4609G>A ENSP00000496611.1:p.Gly1537Ser
ENST00000644335.1:c.4606G>A ENSP00000496317.1:p.Gly1536Ser
ENST00000644399.1:c.4731G>A
ENST00000644417.2:c.*5323G>A ENSP00000493912.2:n.*5323G>A
ENST00000645024.1:n.2894G>A
ENST00000646388.1:c.4804G>A ENSP00000495921.1:p.Gly1602Ser
ENST00000646464.2:c.*7559G>A ENSP00000496610.2:n.*7559G>A
ENST00000646634.1:n.3625G>A
ENST00000646674.1:n.2062G>A
ENST00000647042.1:n.2033G>A
ENST00000647180.1:n.1923G>A
XM_005255529.3:c.4681G>A XP_005255586.2:p.Gly1561Ser
XM_005255531.3:c.4612G>A XP_005255588.2:p.Gly1538Ser
XM_005255531.4:c.4612G>A XP_005255588.2:p.Gly1538Ser
XM_011522636.1:c.4864G>A XP_011520938.1:p.Gly1622Ser
XM_011522636.2:c.4864G>A XP_011520938.1:p.Gly1622Ser
XM_011522637.1:c.4861G>A XP_011520939.1:p.Gly1621Ser
XM_011522637.2:c.4861G>A XP_011520939.1:p.Gly1621Ser
XM_011522638.1:c.4753G>A XP_011520940.1:p.Gly1585Ser
XM_011522638.2:c.5026G>A XP_011520940.2:p.Gly1676Ser
XM_011522639.1:c.4735G>A XP_011520941.1:p.Gly1579Ser
XM_011522639.2:c.4735G>A XP_011520941.1:p.Gly1579Ser
XM_011522640.1:c.4732G>A XP_011520942.1:p.Gly1578Ser
XM_011522640.2:c.4732G>A XP_011520942.1:p.Gly1578Ser
XM_011522641.1:c.4501G>A XP_011520943.1:p.Gly1501Ser
XM_017023615.1:c.4807G>A XP_016879104.1:p.Gly1603Ser
XM_017023616.1:c.4678G>A XP_016879105.1:p.Gly1560Ser
XM_017023617.1:c.4774G>A XP_016879106.1:p.Gly1592Ser
XM_017023618.1:c.3520G>A XP_016879107.1:p.Gly1174Ser
XM_024450413.1:c.4609G>A XP_024306181.1:p.Gly1537Ser