Canonical Allele Identifier: CA658798468

Gene: TSC2

Linked Data

• ClinVar Variation Id: 535979
• ClinVar RCV Id: RCV000644228
• dbSNP Id: rs1555512330
• MyVariant Identifiers: chr16:g.2131626_2131827del (hg19) ; chr16:g.2081625_2081826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081625_2081826del , CM000678.2:g.2081625_2081826del	GRCh38
NC_000016.9:g.2131626_2131827del , CM000678.1:g.2131626_2131827del	GRCh37
NC_000016.8:g.2071627_2071828del	NCBI36
NG_005895.1:g.37320_37521del , LRG_487:g.37320_37521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2059_*2232+28del
ENST00000642206.2:c.3557_3730+28del
ENST00000642365.2:c.3638_3811+28del
ENST00000644417.2:c.*4090_*4263+28del
ENST00000646464.2:c.*4563_*4764del	ENSP00000496610.2:n.*4563_*4764del
ENST00000219476.9:c.3641_3814+28del
ENST00000350773.9:c.3641_3814+28del
ENST00000401874.7:c.3509_3682+28del
ENST00000568454.6:c.3542_3715+28del
ENST00000642365.1:c.2295_2468+28del
ENST00000642561.1:c.3512_3685+28del
ENST00000642797.1:c.3512_3685+28del
ENST00000642936.1:c.3509_3682+28del
ENST00000643088.1:c.3509_3682+28del
ENST00000643426.1:n.1289_1462+28del
ENST00000643533.1:n.151_324+28del
ENST00000643946.1:c.3641_3814+28del
ENST00000644043.1:c.3512_3685+28del
ENST00000644329.1:c.3509_3682+28del
ENST00000644335.1:c.3512_3685+28del
ENST00000644399.1:c.3631_3804+28del
ENST00000644722.1:n.787_960+28del
ENST00000645024.1:n.1794_1967+28del
ENST00000646388.1:c.3641_3814+28del
ENST00000646634.1:n.2525_2698+28del
ENST00000646674.1:n.256_457del
ENST00000647042.1:n.933_1106+28del
ENST00000647180.1:n.121_322del
ENST00000219476.7:c.3641_3814+28del
ENST00000350773.8:c.3641_3814+28del
ENST00000382538.10:c.3365_3538+28del
ENST00000401874.6:c.3509_3682+28del
ENST00000439117.6:c.*2808_*2981+28del
ENST00000439673.6:c.3401_3574+28del
ENST00000497886.5:n.1468_1641+28del
ENST00000568454.5:c.3542_3715+28del
NM_000548.3:c.3641_3814+28del , LRG_487t1:c.3641_3814+28del
NM_001077183.1:c.3509_3682+28del
NM_001114382.1:c.3641_3814+28del
XM_005255529.3:c.3512_3685+28del
XM_005255531.3:c.3512_3685+28del
XM_011522636.1:c.3641_3814+28del
XM_011522637.1:c.3638_3811+28del
XM_011522638.1:c.3530_3703+28del
XM_011522639.1:c.3512_3685+28del
XM_011522640.1:c.3509_3682+28del
XM_011522641.1:c.3401_3574+28del
NM_000548.4:c.3641_3814+28del
NM_001077183.2:c.3509_3682+28del
NM_001114382.2:c.3641_3814+28del
NM_001318827.1:c.3401_3574+28del
NM_001318829.1:c.3365_3538+28del
NM_001318831.1:c.2909_3082+28del
NM_001318832.1:c.3542_3715+28del
NM_001363528.1:c.3512_3685+28del
NM_021055.2:c.3512_3685+28del
XM_005255531.4:c.3512_3685+28del
XM_011522636.2:c.3641_3814+28del
XM_011522637.2:c.3638_3811+28del
XM_011522638.2:c.3803_3976+28del
XM_011522639.2:c.3512_3685+28del
XM_011522640.2:c.3509_3682+28del
XM_017023615.1:c.3638_3811+28del
XM_017023616.1:c.3509_3682+28del
XM_017023617.1:c.3674_3847+28del
XM_017023618.1:c.2297_2470+28del
XM_024450413.1:c.3509_3682+28del
NM_000548.5:c.3641_3814+28del
NM_001370404.1:c.3509_3682+28del
NM_001370405.1:c.3512_3685+28del
NM_001077183.3:c.3509_3682+28del
NM_001114382.3:c.3641_3814+28del
NM_001318827.2:c.3401_3574+28del
NM_001318829.2:c.3365_3538+28del
NM_001318831.2:c.2909_3082+28del
NM_001318832.2:c.3542_3715+28del
NM_001363528.2:c.3512_3685+28del
NM_021055.3:c.3512_3685+28del