Canonical Allele Identifier: CA16620090
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418920
ClinVar RCV Id: RCV000484634
dbSNP Id: rs1064793524
MyVariant Identifiers: chr16:g.2121905_2121906del (hg19) chr16:g.2071904_2071905del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2071904_2071905del , CM000678.2:g.2071904_2071905del GRCh38
NC_000016.9:g.2121905_2121906del , CM000678.1:g.2121905_2121906del GRCh37
NC_000016.8:g.2061906_2061907del NCBI36
NG_005895.1:g.27599_27600del , LRG_487:g.27599_27600del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*614_*615del ENSP00000455997.2:n.*614_*615del
ENST00000642206.2:c.2112_2113del ENSP00000495146.2:p.Phe705ProfsTer12
ENST00000642365.2:c.2067_2068del ENSP00000495459.2:p.Phe690ProfsTer12
ENST00000644417.2:c.*1504_*1505del ENSP00000493912.2:n.*1504_*1505del
ENST00000646464.2:c.*1672_*1673del ENSP00000496610.2:n.*1672_*1673del
ENST00000219476.9:c.2067_2068del MANE Select ENSP00000219476.3:p.Phe690ProfsTer12
ENST00000350773.9:c.2067_2068del ENSP00000344383.4:p.Phe690ProfsTer12
ENST00000401874.7:c.2067_2068del ENSP00000384468.2:p.Phe690ProfsTer12
ENST00000563346.2:n.245_246del
ENST00000568454.6:c.2100_2101del ENSP00000454487.1:p.Phe701ProfsTer12
ENST00000642365.1:c.724_725del
ENST00000642561.1:c.2067_2068del ENSP00000495099.1:p.Phe690ProfsTer12
ENST00000642797.1:c.2067_2068del ENSP00000493846.1:p.Phe690ProfsTer12
ENST00000642936.1:c.2067_2068del ENSP00000494514.1:p.Phe690ProfsTer12
ENST00000643088.1:c.2067_2068del ENSP00000494747.1:p.Phe690ProfsTer12
ENST00000643298.1:c.*1569_*1570del ENSP00000494393.1:n.*1569_*1570del
ENST00000643946.1:c.2067_2068del ENSP00000495927.1:p.Phe690ProfsTer12
ENST00000644043.1:c.2067_2068del ENSP00000496262.1:p.Phe690ProfsTer12
ENST00000644329.1:c.2067_2068del ENSP00000496611.1:p.Phe690ProfsTer12
ENST00000644335.1:c.2067_2068del ENSP00000496317.1:p.Phe690ProfsTer12
ENST00000644399.1:c.2060_2061del
ENST00000644847.1:n.1059_1060del
ENST00000645024.1:n.349_350del
ENST00000645552.1:n.347_348del
ENST00000646388.1:c.2067_2068del ENSP00000495921.1:p.Phe690ProfsTer12
ENST00000646464.1:c.120_121del ENSP00000496610.1:p.Phe41ProfsTer?
ENST00000646634.1:n.1080_1081del
ENST00000219476.7:c.2067_2068del ENSP00000219476.3:p.Phe690ProfsTer12
ENST00000350773.8:c.2067_2068del ENSP00000344383.4:p.Phe690ProfsTer12
ENST00000382538.10:c.1920_1921del ENSP00000371978.6:p.Phe641ProfsTer12
ENST00000401874.6:c.2067_2068del ENSP00000384468.2:p.Phe690ProfsTer12
ENST00000439117.6:c.*1366_*1367del ENSP00000406980.2:n.*1366_*1367del
ENST00000439673.6:c.1956_1957del ENSP00000399232.2:p.Phe653ProfsTer12
ENST00000563346.1:n.136_137del
ENST00000568454.5:c.2100_2101del ENSP00000454487.1:p.Phe701ProfsTer12
NM_000548.3:c.2067_2068del , LRG_487t1:c.2067_2068del NP_000539.2:p.Phe690ProfsTer12
NM_001077183.1:c.2067_2068del NP_001070651.1:p.Phe690ProfsTer12
NM_001114382.1:c.2067_2068del NP_001107854.1:p.Phe690ProfsTer12
XM_005255529.3:c.2067_2068del XP_005255586.2:p.Phe690ProfsTer12
XM_005255531.3:c.2067_2068del XP_005255588.2:p.Phe690ProfsTer12
XM_011522636.1:c.2067_2068del XP_011520938.1:p.Phe690ProfsTer12
XM_011522637.1:c.2067_2068del XP_011520939.1:p.Phe690ProfsTer12
XM_011522638.1:c.1956_1957del XP_011520940.1:p.Phe653ProfsTer12
XM_011522639.1:c.2067_2068del XP_011520941.1:p.Phe690ProfsTer12
XM_011522640.1:c.2067_2068del XP_011520942.1:p.Phe690ProfsTer12
XM_011522641.1:c.1956_1957del XP_011520943.1:p.Phe653ProfsTer12
NM_000548.4:c.2067_2068del NP_000539.2:p.Phe690ProfsTer12
NM_001077183.2:c.2067_2068del NP_001070651.1:p.Phe690ProfsTer12
NM_001114382.2:c.2067_2068del NP_001107854.1:p.Phe690ProfsTer12
NM_001318827.1:c.1956_1957del NP_001305756.1:p.Phe653ProfsTer12
NM_001318829.1:c.1920_1921del NP_001305758.1:p.Phe641ProfsTer12
NM_001318831.1:c.1467_1468del NP_001305760.1:p.Phe490ProfsTer12
NM_001318832.1:c.2100_2101del NP_001305761.1:p.Phe701ProfsTer12
NM_001363528.1:c.2067_2068del NP_001350457.1:p.Phe690ProfsTer12
NM_021055.2:c.2067_2068del NP_066399.2:p.Phe690ProfsTer12
XM_005255531.4:c.2067_2068del XP_005255588.2:p.Phe690ProfsTer12
XM_011522636.2:c.2067_2068del XP_011520938.1:p.Phe690ProfsTer12
XM_011522637.2:c.2067_2068del XP_011520939.1:p.Phe690ProfsTer12
XM_011522638.2:c.2229_2230del XP_011520940.2:p.Phe744ProfsTer12
XM_011522639.2:c.2067_2068del XP_011520941.1:p.Phe690ProfsTer12
XM_011522640.2:c.2067_2068del XP_011520942.1:p.Phe690ProfsTer12
XM_017023615.1:c.2067_2068del XP_016879104.1:p.Phe690ProfsTer12
XM_017023616.1:c.2067_2068del XP_016879105.1:p.Phe690ProfsTer12
XM_017023617.1:c.2229_2230del XP_016879106.1:p.Phe744ProfsTer12
XM_017023618.1:c.723_724del XP_016879107.1:p.Phe242ProfsTer12
XM_024450413.1:c.2067_2068del XP_024306181.1:p.Phe690ProfsTer12
NM_000548.5:c.2067_2068del MANE Select NP_000539.2:p.Phe690ProfsTer12
NM_001370404.1:c.2067_2068del NP_001357333.1:p.Phe690ProfsTer12
NM_001370405.1:c.2067_2068del NP_001357334.1:p.Phe690ProfsTer12
NM_001077183.3:c.2067_2068del NP_001070651.1:p.Phe690ProfsTer12
NM_001114382.3:c.2067_2068del NP_001107854.1:p.Phe690ProfsTer12
NM_001318827.2:c.1956_1957del NP_001305756.1:p.Phe653ProfsTer12
NM_001318829.2:c.1920_1921del NP_001305758.1:p.Phe641ProfsTer12
NM_001318831.2:c.1467_1468del NP_001305760.1:p.Phe490ProfsTer12
NM_001318832.2:c.2100_2101del NP_001305761.1:p.Phe701ProfsTer12
NM_001363528.2:c.2067_2068del NP_001350457.1:p.Phe690ProfsTer12
NM_021055.3:c.2067_2068del NP_066399.2:p.Phe690ProfsTer12
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