Canonical Allele Identifier: CA319518

Gene: TSC2

Linked Data

• ClinVar Variation Id: 207747
• ClinVar RCV Id: RCV000190022 ; RCV002517023
• dbSNP Id: rs796053496
• MyVariant Identifiers: chr16:g.2131609G>A (hg19) ; chr16:g.2081608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081608G>A , CM000678.2:g.2081608G>A	GRCh38
NC_000016.9:g.2131609G>A , CM000678.1:g.2131609G>A	GRCh37
NC_000016.8:g.2071610G>A	NCBI36
NG_005895.1:g.37303G>A , LRG_487:g.37303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2042G>A	ENSP00000455997.2:n.*2042G>A
ENST00000642206.2:c.3540G>A	ENSP00000495146.2:p.Trp1180Ter
ENST00000642365.2:c.3621G>A	ENSP00000495459.2:p.Trp1207Ter
ENST00000644417.2:c.*4073G>A	ENSP00000493912.2:n.*4073G>A
ENST00000646464.2:c.*4546G>A	ENSP00000496610.2:n.*4546G>A
ENST00000219476.9:c.3624G>A MANE Select	ENSP00000219476.3:p.Trp1208Ter
ENST00000350773.9:c.3624G>A	ENSP00000344383.4:p.Trp1208Ter
ENST00000401874.7:c.3492G>A	ENSP00000384468.2:p.Trp1164Ter
ENST00000568454.6:c.3525G>A	ENSP00000454487.1:p.Trp1175Ter
ENST00000642365.1:c.2278G>A
ENST00000642561.1:c.3495G>A	ENSP00000495099.1:p.Trp1165Ter
ENST00000642797.1:c.3495G>A	ENSP00000493846.1:p.Trp1165Ter
ENST00000642936.1:c.3492G>A	ENSP00000494514.1:p.Trp1164Ter
ENST00000643088.1:c.3492G>A	ENSP00000494747.1:p.Trp1164Ter
ENST00000643426.1:n.1272G>A
ENST00000643533.1:n.134G>A
ENST00000643946.1:c.3624G>A	ENSP00000495927.1:p.Trp1208Ter
ENST00000644043.1:c.3495G>A	ENSP00000496262.1:p.Trp1165Ter
ENST00000644329.1:c.3492G>A	ENSP00000496611.1:p.Trp1164Ter
ENST00000644335.1:c.3495G>A	ENSP00000496317.1:p.Trp1165Ter
ENST00000644399.1:c.3614G>A
ENST00000644722.1:n.770G>A
ENST00000645024.1:n.1777G>A
ENST00000646388.1:c.3624G>A	ENSP00000495921.1:p.Trp1208Ter
ENST00000646634.1:n.2508G>A
ENST00000646674.1:n.239G>A
ENST00000647042.1:n.916G>A
ENST00000647180.1:n.104G>A
ENST00000219476.7:c.3624G>A	ENSP00000219476.3:p.Trp1208Ter
ENST00000350773.8:c.3624G>A	ENSP00000344383.4:p.Trp1208Ter
ENST00000382538.10:c.3348G>A	ENSP00000371978.6:p.Trp1116Ter
ENST00000401874.6:c.3492G>A	ENSP00000384468.2:p.Trp1164Ter
ENST00000439117.6:c.*2791G>A	ENSP00000406980.2:n.*2791G>A
ENST00000439673.6:c.3384G>A	ENSP00000399232.2:p.Trp1128Ter
ENST00000497886.5:n.1451G>A
ENST00000568454.5:c.3525G>A	ENSP00000454487.1:p.Trp1175Ter
NM_000548.3:c.3624G>A , LRG_487t1:c.3624G>A	NP_000539.2:p.Trp1208Ter
NM_001077183.1:c.3492G>A	NP_001070651.1:p.Trp1164Ter
NM_001114382.1:c.3624G>A	NP_001107854.1:p.Trp1208Ter
XM_005255529.3:c.3495G>A	XP_005255586.2:p.Trp1165Ter
XM_005255531.3:c.3495G>A	XP_005255588.2:p.Trp1165Ter
XM_011522636.1:c.3624G>A	XP_011520938.1:p.Trp1208Ter
XM_011522637.1:c.3621G>A	XP_011520939.1:p.Trp1207Ter
XM_011522638.1:c.3513G>A	XP_011520940.1:p.Trp1171Ter
XM_011522639.1:c.3495G>A	XP_011520941.1:p.Trp1165Ter
XM_011522640.1:c.3492G>A	XP_011520942.1:p.Trp1164Ter
XM_011522641.1:c.3384G>A	XP_011520943.1:p.Trp1128Ter
NM_000548.4:c.3624G>A	NP_000539.2:p.Trp1208Ter
NM_001077183.2:c.3492G>A	NP_001070651.1:p.Trp1164Ter
NM_001114382.2:c.3624G>A	NP_001107854.1:p.Trp1208Ter
NM_001318827.1:c.3384G>A	NP_001305756.1:p.Trp1128Ter
NM_001318829.1:c.3348G>A	NP_001305758.1:p.Trp1116Ter
NM_001318831.1:c.2892G>A	NP_001305760.1:p.Trp964Ter
NM_001318832.1:c.3525G>A	NP_001305761.1:p.Trp1175Ter
NM_001363528.1:c.3495G>A	NP_001350457.1:p.Trp1165Ter
NM_021055.2:c.3495G>A	NP_066399.2:p.Trp1165Ter
XM_005255531.4:c.3495G>A	XP_005255588.2:p.Trp1165Ter
XM_011522636.2:c.3624G>A	XP_011520938.1:p.Trp1208Ter
XM_011522637.2:c.3621G>A	XP_011520939.1:p.Trp1207Ter
XM_011522638.2:c.3786G>A	XP_011520940.2:p.Trp1262Ter
XM_011522639.2:c.3495G>A	XP_011520941.1:p.Trp1165Ter
XM_011522640.2:c.3492G>A	XP_011520942.1:p.Trp1164Ter
XM_017023615.1:c.3621G>A	XP_016879104.1:p.Trp1207Ter
XM_017023616.1:c.3492G>A	XP_016879105.1:p.Trp1164Ter
XM_017023617.1:c.3657G>A	XP_016879106.1:p.Trp1219Ter
XM_017023618.1:c.2280G>A	XP_016879107.1:p.Trp760Ter
XM_024450413.1:c.3492G>A	XP_024306181.1:p.Trp1164Ter
NM_000548.5:c.3624G>A MANE Select	NP_000539.2:p.Trp1208Ter
NM_001370404.1:c.3492G>A	NP_001357333.1:p.Trp1164Ter
NM_001370405.1:c.3495G>A	NP_001357334.1:p.Trp1165Ter
NM_001077183.3:c.3492G>A	NP_001070651.1:p.Trp1164Ter
NM_001114382.3:c.3624G>A	NP_001107854.1:p.Trp1208Ter
NM_001318827.2:c.3384G>A	NP_001305756.1:p.Trp1128Ter
NM_001318829.2:c.3348G>A	NP_001305758.1:p.Trp1116Ter
NM_001318831.2:c.2892G>A	NP_001305760.1:p.Trp964Ter
NM_001318832.2:c.3525G>A	NP_001305761.1:p.Trp1175Ter
NM_001363528.2:c.3495G>A	NP_001350457.1:p.Trp1165Ter
NM_021055.3:c.3495G>A	NP_066399.2:p.Trp1165Ter