Canonical Allele Identifier: CA2201991484

Gene: TSC2

Linked Data

• ClinVar Variation Id: 959527
• ClinVar RCV Id: RCV001232901 ; RCV002256714
• dbSNP Id: rs2084688881
• gnomAD v4: 16-2048751-AGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2048759_2048762del , CM000678.2:g.2048759_2048762del	GRCh38
NC_000016.9:g.2098760_2098763del , CM000678.1:g.2098760_2098763del	GRCh37
NC_000016.8:g.2038761_2038764del	NCBI36
NG_005895.1:g.4454_4457del , LRG_487:g.4454_4457del
NG_008412.1:g.4112_4115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.138+6_138+9del
ENST00000642206.2:c.138+6_138+9del
ENST00000642365.2:c.138+6_138+9del
ENST00000644417.2:c.138+6_138+9del
ENST00000646464.2:c.138+6_138+9del
ENST00000219476.9:c.138+6_138+9del
ENST00000350773.9:c.138+6_138+9del
ENST00000401874.7:c.138+6_138+9del
ENST00000461648.3:n.248+6_248+9del
ENST00000568454.6:c.171+6_171+9del
ENST00000568692.2:n.18+6_18+9del
ENST00000642206.1:c.138+6_138+9del
ENST00000642561.1:c.138+6_138+9del
ENST00000642797.1:c.138+6_138+9del
ENST00000642812.1:n.195+6_195+9del
ENST00000642936.1:c.138+6_138+9del
ENST00000643088.1:c.138+6_138+9del
ENST00000643149.1:n.248+6_248+9del
ENST00000643298.1:c.138+6_138+9del
ENST00000643745.1:c.138+6_138+9del
ENST00000643946.1:c.138+6_138+9del
ENST00000644043.1:c.138+6_138+9del
ENST00000644135.1:c.138+6_138+9del
ENST00000644222.1:n.225+6_225+9del
ENST00000644329.1:c.138+6_138+9del
ENST00000644335.1:c.138+6_138+9del
ENST00000644399.1:c.131+6_131+9del
ENST00000644665.1:n.255+6_255+9del
ENST00000645591.1:n.266+6_266+9del
ENST00000646388.1:c.138+6_138+9del
ENST00000647234.1:n.13+6_13+9del
ENST00000219476.7:c.138+6_138+9del
ENST00000350773.8:c.138+6_138+9del
ENST00000382538.10:c.-10+694_-10+697del	ENSP00000371978.6:n.-10+694_-10+697del
ENST00000401874.6:c.138+6_138+9del
ENST00000439117.6:c.138+6_138+9del
ENST00000439673.6:c.138+6_138+9del
ENST00000461648.2:n.243+6_243+9del
ENST00000568454.5:c.171+6_171+9del
NM_000548.3:c.138+6_138+9del , LRG_487t1:c.138+6_138+9del
NM_001077183.1:c.138+6_138+9del
NM_001114382.1:c.138+6_138+9del
XM_005255529.3:c.138+6_138+9del
XM_005255531.3:c.138+6_138+9del
XM_011522636.1:c.138+6_138+9del
XM_011522637.1:c.138+6_138+9del
XM_011522638.1:c.138+6_138+9del
XM_011522639.1:c.138+6_138+9del
XM_011522640.1:c.138+6_138+9del
XM_011522641.1:c.138+6_138+9del
NM_000548.4:c.138+6_138+9del
NM_001077183.2:c.138+6_138+9del
NM_001114382.2:c.138+6_138+9del
NM_001318827.1:c.138+6_138+9del
NM_001318829.1:c.-10+694_-10+697del	NP_001305758.1:n.-10+694_-10+697del
NM_001318831.1:c.-89+6_-89+9del
NM_001318832.1:c.171+6_171+9del
NM_001363528.1:c.138+6_138+9del
NM_021055.2:c.138+6_138+9del
XM_005255531.4:c.138+6_138+9del
XM_011522636.2:c.138+6_138+9del
XM_011522637.2:c.138+6_138+9del
XM_011522638.2:c.411+6_411+9del
XM_011522639.2:c.138+6_138+9del
XM_011522640.2:c.138+6_138+9del
XM_017023615.1:c.138+6_138+9del
XM_017023616.1:c.138+6_138+9del
XM_017023617.1:c.411+6_411+9del
XM_017023618.1:c.-1294+6_-1294+9del
XM_024450413.1:c.138+6_138+9del
NM_000548.5:c.138+6_138+9del
NM_001370404.1:c.138+6_138+9del
NM_001370405.1:c.138+6_138+9del
NM_001077183.3:c.138+6_138+9del
NM_001114382.3:c.138+6_138+9del
NM_001318827.2:c.138+6_138+9del
NM_001318829.2:c.-10+694_-10+697del	NP_001305758.1:n.-10+694_-10+697del
NM_001318831.2:c.-89+6_-89+9del
NM_001318832.2:c.171+6_171+9del
NM_001363528.2:c.138+6_138+9del
NM_021055.3:c.138+6_138+9del