Canonical Allele Identifier: CA16042978

Gene: TSC2

Linked Data

• ClinVar Variation Id: 373664
• ClinVar RCV Id: RCV000414690
• dbSNP Id: rs1057518535
• MyVariant Identifiers: chr16:g.2098750_2098755delinsC (hg19) ; chr16:g.2048749_2048754delinsC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2048749_2048754delinsC , CM000678.2:g.2048749_2048754delinsC	GRCh38
NC_000016.9:g.2098750_2098755delinsC , CM000678.1:g.2098750_2098755delinsC	GRCh37
NC_000016.8:g.2038751_2038756delinsC	NCBI36
NG_005895.1:g.4444_4449delinsC , LRG_487:g.4444_4449delinsC
NG_008412.1:g.4113_4118delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.134_138+1delinsC
ENST00000642206.2:c.134_138+1delinsC
ENST00000642365.2:c.134_138+1delinsC
ENST00000644417.2:c.134_138+1delinsC
ENST00000646464.2:c.134_138+1delinsC
ENST00000219476.9:c.134_138+1delinsC
ENST00000350773.9:c.134_138+1delinsC
ENST00000401874.7:c.134_138+1delinsC
ENST00000461648.3:n.244_248+1delinsC
ENST00000568454.6:c.167_171+1delinsC
ENST00000568692.2:n.14_18+1delinsC
ENST00000642206.1:c.134_138+1delinsC
ENST00000642561.1:c.134_138+1delinsC
ENST00000642797.1:c.134_138+1delinsC
ENST00000642812.1:n.191_195+1delinsC
ENST00000642936.1:c.134_138+1delinsC
ENST00000643088.1:c.134_138+1delinsC
ENST00000643149.1:n.244_248+1delinsC
ENST00000643298.1:c.134_138+1delinsC
ENST00000643745.1:c.134_138+1delinsC
ENST00000643946.1:c.134_138+1delinsC
ENST00000644043.1:c.134_138+1delinsC
ENST00000644135.1:c.134_138+1delinsC
ENST00000644222.1:n.221_225+1delinsC
ENST00000644329.1:c.134_138+1delinsC
ENST00000644335.1:c.134_138+1delinsC
ENST00000644399.1:c.127_131+1delinsC
ENST00000644665.1:n.251_255+1delinsC
ENST00000645591.1:n.262_266+1delinsC
ENST00000646388.1:c.134_138+1delinsC
ENST00000647234.1:n.9_13+1delinsC
ENST00000219476.7:c.134_138+1delinsC
ENST00000350773.8:c.134_138+1delinsC
ENST00000382538.10:c.-10+684_-10+689delinsC	ENSP00000371978.6:n.-10+684_-10+689delinsC
ENST00000401874.6:c.134_138+1delinsC
ENST00000439117.6:c.134_138+1delinsC
ENST00000439673.6:c.134_138+1delinsC
ENST00000461648.2:n.239_243+1delinsC
ENST00000568454.5:c.167_171+1delinsC
NM_000548.3:c.134_138+1delinsC , LRG_487t1:c.134_138+1delinsC
NM_001077183.1:c.134_138+1delinsC
NM_001114382.1:c.134_138+1delinsC
XM_005255529.3:c.134_138+1delinsC
XM_005255531.3:c.134_138+1delinsC
XM_011522636.1:c.134_138+1delinsC
XM_011522637.1:c.134_138+1delinsC
XM_011522638.1:c.134_138+1delinsC
XM_011522639.1:c.134_138+1delinsC
XM_011522640.1:c.134_138+1delinsC
XM_011522641.1:c.134_138+1delinsC
NM_000548.4:c.134_138+1delinsC
NM_001077183.2:c.134_138+1delinsC
NM_001114382.2:c.134_138+1delinsC
NM_001318827.1:c.134_138+1delinsC
NM_001318829.1:c.-10+684_-10+689delinsC	NP_001305758.1:n.-10+684_-10+689delinsC
NM_001318831.1:c.-93_-89+1delinsC
NM_001318832.1:c.167_171+1delinsC
NM_001363528.1:c.134_138+1delinsC
NM_021055.2:c.134_138+1delinsC
XM_005255531.4:c.134_138+1delinsC
XM_011522636.2:c.134_138+1delinsC
XM_011522637.2:c.134_138+1delinsC
XM_011522638.2:c.407_411+1delinsC
XM_011522639.2:c.134_138+1delinsC
XM_011522640.2:c.134_138+1delinsC
XM_017023615.1:c.134_138+1delinsC
XM_017023616.1:c.134_138+1delinsC
XM_017023617.1:c.407_411+1delinsC
XM_017023618.1:c.-1298_-1294+1delinsC
XM_024450413.1:c.134_138+1delinsC
NM_000548.5:c.134_138+1delinsC
NM_001370404.1:c.134_138+1delinsC
NM_001370405.1:c.134_138+1delinsC
NM_001077183.3:c.134_138+1delinsC
NM_001114382.3:c.134_138+1delinsC
NM_001318827.2:c.134_138+1delinsC
NM_001318829.2:c.-10+684_-10+689delinsC	NP_001305758.1:n.-10+684_-10+689delinsC
NM_001318831.2:c.-93_-89+1delinsC
NM_001318832.2:c.167_171+1delinsC
NM_001363528.2:c.134_138+1delinsC
NM_021055.3:c.134_138+1delinsC