Canonical Allele Identifier: CA018734

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65117
• ClinVar RCV Id: RCV000055329 ; RCV000190073 ; RCV002496738 ; RCV001853094
• dbSNP Id: rs397515087
• gnomAD v4: 16-2079380-C-A
• MyVariant Identifiers: chr16:g.2129381C>A (hg19) ; chr16:g.2079380C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079380C>A , CM000678.2:g.2079380C>A	GRCh38
NC_000016.9:g.2129381C>A , CM000678.1:g.2129381C>A	GRCh37
NC_000016.8:g.2069382C>A	NCBI36
NG_005895.1:g.35075C>A , LRG_487:g.35075C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1654C>A	ENSP00000455997.2:n.*1654C>A
ENST00000642206.2:c.3152C>A	ENSP00000495146.2:p.Ser1051Ter
ENST00000642365.2:c.3233C>A	ENSP00000495459.2:p.Ser1078Ter
ENST00000644417.2:c.*3685C>A	ENSP00000493912.2:n.*3685C>A
ENST00000646464.2:c.*4158C>A	ENSP00000496610.2:n.*4158C>A
ENST00000219476.9:c.3236C>A MANE Select	ENSP00000219476.3:p.Ser1079Ter
ENST00000350773.9:c.3236C>A	ENSP00000344383.4:p.Ser1079Ter
ENST00000401874.7:c.3104C>A	ENSP00000384468.2:p.Ser1035Ter
ENST00000471143.6:c.464C>A	ENSP00000458541.2:n.464C>A
ENST00000568454.6:c.3137C>A	ENSP00000454487.1:p.Ser1046Ter
ENST00000642365.1:c.1890C>A
ENST00000642561.1:c.3107C>A	ENSP00000495099.1:p.Ser1036Ter
ENST00000642797.1:c.3107C>A	ENSP00000493846.1:p.Ser1036Ter
ENST00000642936.1:c.3104C>A	ENSP00000494514.1:p.Ser1035Ter
ENST00000643088.1:c.3104C>A	ENSP00000494747.1:p.Ser1035Ter
ENST00000643946.1:c.3236C>A	ENSP00000495927.1:p.Ser1079Ter
ENST00000644043.1:c.3107C>A	ENSP00000496262.1:p.Ser1036Ter
ENST00000644329.1:c.3104C>A	ENSP00000496611.1:p.Ser1035Ter
ENST00000644335.1:c.3107C>A	ENSP00000496317.1:p.Ser1036Ter
ENST00000644399.1:c.3226C>A
ENST00000644722.1:n.382C>A
ENST00000645024.1:n.1389C>A
ENST00000646388.1:c.3236C>A	ENSP00000495921.1:p.Ser1079Ter
ENST00000646634.1:n.2120C>A
ENST00000647042.1:n.528C>A
ENST00000219476.7:c.3236C>A	ENSP00000219476.3:p.Ser1079Ter
ENST00000350773.8:c.3236C>A	ENSP00000344383.4:p.Ser1079Ter
ENST00000382538.10:c.2960C>A	ENSP00000371978.6:p.Ser987Ter
ENST00000401874.6:c.3104C>A	ENSP00000384468.2:p.Ser1035Ter
ENST00000439117.6:c.*2403C>A	ENSP00000406980.2:n.*2403C>A
ENST00000439673.6:c.2996C>A	ENSP00000399232.2:p.Ser999Ter
ENST00000471143.5:c.462C>A
ENST00000483020.5:c.476C>A	ENSP00000460310.1:n.476C>A
ENST00000497886.5:n.1063C>A
ENST00000561695.1:n.461C>A
ENST00000568366.5:n.593C>A
ENST00000568454.5:c.3137C>A	ENSP00000454487.1:p.Ser1046Ter
NM_000548.3:c.3236C>A , LRG_487t1:c.3236C>A	NP_000539.2:p.Ser1079Ter
NM_001077183.1:c.3104C>A	NP_001070651.1:p.Ser1035Ter
NM_001114382.1:c.3236C>A	NP_001107854.1:p.Ser1079Ter
XM_005255529.3:c.3107C>A	XP_005255586.2:p.Ser1036Ter
XM_005255531.3:c.3107C>A	XP_005255588.2:p.Ser1036Ter
XM_011522636.1:c.3236C>A	XP_011520938.1:p.Ser1079Ter
XM_011522637.1:c.3233C>A	XP_011520939.1:p.Ser1078Ter
XM_011522638.1:c.3125C>A	XP_011520940.1:p.Ser1042Ter
XM_011522639.1:c.3107C>A	XP_011520941.1:p.Ser1036Ter
XM_011522640.1:c.3104C>A	XP_011520942.1:p.Ser1035Ter
XM_011522641.1:c.2996C>A	XP_011520943.1:p.Ser999Ter
NM_000548.4:c.3236C>A	NP_000539.2:p.Ser1079Ter
NM_001077183.2:c.3104C>A	NP_001070651.1:p.Ser1035Ter
NM_001114382.2:c.3236C>A	NP_001107854.1:p.Ser1079Ter
NM_001318827.1:c.2996C>A	NP_001305756.1:p.Ser999Ter
NM_001318829.1:c.2960C>A	NP_001305758.1:p.Ser987Ter
NM_001318831.1:c.2504C>A	NP_001305760.1:p.Ser835Ter
NM_001318832.1:c.3137C>A	NP_001305761.1:p.Ser1046Ter
NM_001363528.1:c.3107C>A	NP_001350457.1:p.Ser1036Ter
NM_021055.2:c.3107C>A	NP_066399.2:p.Ser1036Ter
XM_005255531.4:c.3107C>A	XP_005255588.2:p.Ser1036Ter
XM_011522636.2:c.3236C>A	XP_011520938.1:p.Ser1079Ter
XM_011522637.2:c.3233C>A	XP_011520939.1:p.Ser1078Ter
XM_011522638.2:c.3398C>A	XP_011520940.2:p.Ser1133Ter
XM_011522639.2:c.3107C>A	XP_011520941.1:p.Ser1036Ter
XM_011522640.2:c.3104C>A	XP_011520942.1:p.Ser1035Ter
XM_017023615.1:c.3233C>A	XP_016879104.1:p.Ser1078Ter
XM_017023616.1:c.3104C>A	XP_016879105.1:p.Ser1035Ter
XM_017023617.1:c.3269C>A	XP_016879106.1:p.Ser1090Ter
XM_017023618.1:c.1892C>A	XP_016879107.1:p.Ser631Ter
XM_024450413.1:c.3104C>A	XP_024306181.1:p.Ser1035Ter
NM_000548.5:c.3236C>A MANE Select	NP_000539.2:p.Ser1079Ter
NM_001370404.1:c.3104C>A	NP_001357333.1:p.Ser1035Ter
NM_001370405.1:c.3107C>A	NP_001357334.1:p.Ser1036Ter
NM_001077183.3:c.3104C>A	NP_001070651.1:p.Ser1035Ter
NM_001114382.3:c.3236C>A	NP_001107854.1:p.Ser1079Ter
NM_001318827.2:c.2996C>A	NP_001305756.1:p.Ser999Ter
NM_001318829.2:c.2960C>A	NP_001305758.1:p.Ser987Ter
NM_001318831.2:c.2504C>A	NP_001305760.1:p.Ser835Ter
NM_001318832.2:c.3137C>A	NP_001305761.1:p.Ser1046Ter
NM_001363528.2:c.3107C>A	NP_001350457.1:p.Ser1036Ter
NM_021055.3:c.3107C>A	NP_066399.2:p.Ser1036Ter