Canonical Allele Identifier: CA394302529
Community Standard Title: NM_000548.5(TSC2):c.4473A>C (p.Lys1491Asn)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084695A>C , CM000678.2:g.2084695A>C GRCh38
NC_000016.9:g.2134696A>C , CM000678.1:g.2134696A>C GRCh37
NC_000016.8:g.2074697A>C NCBI36
NG_005895.1:g.40390A>C , LRG_487:g.40390A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4473A>C MANE Select NP_000539.2:p.Lys1491Asn
ENST00000219476.9:c.4473A>C MANE Select ENSP00000219476.3:p.Lys1491Asn
NM_000548.3:c.4473A>C , LRG_487t1:c.4473A>C NP_000539.2:p.Lys1491Asn
NM_000548.4:c.4473A>C NP_000539.2:p.Lys1491Asn
NM_001077183.1:c.4272A>C NP_001070651.1:p.Lys1424Asn
NM_001077183.2:c.4272A>C NP_001070651.1:p.Lys1424Asn
NM_001077183.3:c.4272A>C NP_001070651.1:p.Lys1424Asn
NM_001114382.1:c.4404A>C NP_001107854.1:p.Lys1468Asn
NM_001114382.2:c.4404A>C NP_001107854.1:p.Lys1468Asn
NM_001114382.3:c.4404A>C NP_001107854.1:p.Lys1468Asn
NM_001318827.1:c.4164A>C NP_001305756.1:p.Lys1388Asn
NM_001318827.2:c.4164A>C NP_001305756.1:p.Lys1388Asn
NM_001318829.1:c.4128A>C NP_001305758.1:p.Lys1376Asn
NM_001318829.2:c.4128A>C NP_001305758.1:p.Lys1376Asn
NM_001318831.1:c.3741A>C NP_001305760.1:p.Lys1247Asn
NM_001318831.2:c.3741A>C NP_001305760.1:p.Lys1247Asn
NM_001318832.1:c.4305A>C NP_001305761.1:p.Lys1435Asn
NM_001318832.2:c.4305A>C NP_001305761.1:p.Lys1435Asn
NM_001363528.1:c.4275A>C NP_001350457.1:p.Lys1425Asn
NM_001363528.2:c.4275A>C NP_001350457.1:p.Lys1425Asn
NM_001370404.1:c.4341A>C NP_001357333.1:p.Lys1447Asn
NM_001370405.1:c.4344A>C NP_001357334.1:p.Lys1448Asn
NM_021055.2:c.4344A>C NP_066399.2:p.Lys1448Asn
NM_021055.3:c.4344A>C NP_066399.2:p.Lys1448Asn
ENST00000219476.7:c.4473A>C ENSP00000219476.3:p.Lys1491Asn
ENST00000350773.8:c.4404A>C ENSP00000344383.4:p.Lys1468Asn
ENST00000350773.9:c.4404A>C ENSP00000344383.4:p.Lys1468Asn
ENST00000382538.10:c.4128A>C ENSP00000371978.6:p.Lys1376Asn
ENST00000401874.6:c.4272A>C ENSP00000384468.2:p.Lys1424Asn
ENST00000401874.7:c.4272A>C ENSP00000384468.2:p.Lys1424Asn
ENST00000439117.6:c.*3640A>C ENSP00000406980.2:n.*3640A>C
ENST00000439673.6:c.4164A>C ENSP00000399232.2:p.Lys1388Asn
ENST00000497886.5:n.2231A>C
ENST00000568454.5:c.4305A>C ENSP00000454487.1:p.Lys1435Asn
ENST00000568454.6:c.4305A>C ENSP00000454487.1:p.Lys1435Asn
ENST00000568566.6:c.*2822A>C ENSP00000455997.2:n.*2822A>C
ENST00000569110.1:c.655A>C
ENST00000569110.2:c.709A>C
ENST00000569930.1:n.1588A>C
ENST00000569930.2:n.2355A>C
ENST00000642206.2:c.4320A>C ENSP00000495146.2:p.Lys1440Asn
ENST00000642365.1:c.3127A>C
ENST00000642365.2:c.4470A>C ENSP00000495459.2:p.Lys1490Asn
ENST00000642561.1:c.4344A>C ENSP00000495099.1:p.Lys1448Asn
ENST00000642728.1:n.655A>C
ENST00000642797.1:c.4275A>C ENSP00000493846.1:p.Lys1425Asn
ENST00000642936.1:c.4341A>C ENSP00000494514.1:p.Lys1447Asn
ENST00000643088.1:c.4272A>C ENSP00000494747.1:p.Lys1424Asn
ENST00000643177.1:n.487A>C
ENST00000643426.1:n.2121A>C
ENST00000643946.1:c.4404A>C ENSP00000495927.1:p.Lys1468Asn
ENST00000644043.1:c.4344A>C ENSP00000496262.1:p.Lys1448Asn
ENST00000644329.1:c.4272A>C ENSP00000496611.1:p.Lys1424Asn
ENST00000644335.1:c.4275A>C ENSP00000496317.1:p.Lys1425Asn
ENST00000644399.1:c.4394A>C
ENST00000644417.2:c.*4853A>C ENSP00000493912.2:n.*4853A>C
ENST00000645024.1:n.2557A>C
ENST00000646388.1:c.4473A>C ENSP00000495921.1:p.Lys1491Asn
ENST00000646464.2:c.*7222A>C ENSP00000496610.2:n.*7222A>C
ENST00000646634.1:n.3288A>C
ENST00000646674.1:n.1725A>C
ENST00000647042.1:n.1696A>C
ENST00000647180.1:n.1586A>C
XM_005255529.3:c.4344A>C XP_005255586.2:p.Lys1448Asn
XM_005255531.3:c.4275A>C XP_005255588.2:p.Lys1425Asn
XM_005255531.4:c.4275A>C XP_005255588.2:p.Lys1425Asn
XM_011522636.1:c.4527A>C XP_011520938.1:p.Lys1509Asn
XM_011522636.2:c.4527A>C XP_011520938.1:p.Lys1509Asn
XM_011522637.1:c.4524A>C XP_011520939.1:p.Lys1508Asn
XM_011522637.2:c.4524A>C XP_011520939.1:p.Lys1508Asn
XM_011522638.1:c.4416A>C XP_011520940.1:p.Lys1472Asn
XM_011522638.2:c.4689A>C XP_011520940.2:p.Lys1563Asn
XM_011522639.1:c.4398A>C XP_011520941.1:p.Lys1466Asn
XM_011522639.2:c.4398A>C XP_011520941.1:p.Lys1466Asn
XM_011522640.1:c.4395A>C XP_011520942.1:p.Lys1465Asn
XM_011522640.2:c.4395A>C XP_011520942.1:p.Lys1465Asn
XM_011522641.1:c.4164A>C XP_011520943.1:p.Lys1388Asn
XM_017023615.1:c.4470A>C XP_016879104.1:p.Lys1490Asn
XM_017023616.1:c.4341A>C XP_016879105.1:p.Lys1447Asn
XM_017023617.1:c.4437A>C XP_016879106.1:p.Lys1479Asn
XM_017023618.1:c.3183A>C XP_016879107.1:p.Lys1061Asn
XM_024450413.1:c.4272A>C XP_024306181.1:p.Lys1424Asn