Canonical Allele Identifier: CA018556

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49739
• ClinVar RCV Id: RCV000043004 ; RCV000118703 ; RCV000163284 ; RCV000205029 ; RCV001811310 ; RCV002504930
• dbSNP Id: rs36078782
• ExAC: 16:2129192 G / C
• gnomAD v2: 16-2129192-G-C
• gnomAD v3: 16-2079191-G-C
• gnomAD v4: 16-2079191-G-C
• MyVariant Identifiers: chr16:g.2129192G>C (hg19) ; chr16:g.2079191G>C (hg38)
• PubMed: PMID:16981987

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079191G>C , CM000678.2:g.2079191G>C	GRCh38
NC_000016.9:g.2129192G>C , CM000678.1:g.2129192G>C	GRCh37
NC_000016.8:g.2069193G>C	NCBI36
NG_005895.1:g.34886G>C , LRG_487:g.34886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1544G>C	ENSP00000455997.2:n.*1544G>C
ENST00000642206.2:c.3042G>C	ENSP00000495146.2:p.Pro1014=
ENST00000642365.2:c.3123G>C	ENSP00000495459.2:p.Pro1041=
ENST00000644417.2:c.*3575G>C	ENSP00000493912.2:n.*3575G>C
ENST00000646464.2:c.*4048G>C	ENSP00000496610.2:n.*4048G>C
ENST00000219476.9:c.3126G>C MANE Select	ENSP00000219476.3:p.Pro1042=
ENST00000350773.9:c.3126G>C	ENSP00000344383.4:p.Pro1042=
ENST00000401874.7:c.2994G>C	ENSP00000384468.2:p.Pro998=
ENST00000471143.6:c.354G>C	ENSP00000458541.2:n.354G>C
ENST00000568366.6:n.483G>C
ENST00000568454.6:c.3027G>C	ENSP00000454487.1:p.Pro1009=
ENST00000642365.1:c.1780G>C
ENST00000642561.1:c.2997G>C	ENSP00000495099.1:p.Pro999=
ENST00000642797.1:c.2997G>C	ENSP00000493846.1:p.Pro999=
ENST00000642936.1:c.2994G>C	ENSP00000494514.1:p.Pro998=
ENST00000643088.1:c.2994G>C	ENSP00000494747.1:p.Pro998=
ENST00000643946.1:c.3126G>C	ENSP00000495927.1:p.Pro1042=
ENST00000644043.1:c.2997G>C	ENSP00000496262.1:p.Pro999=
ENST00000644329.1:c.2994G>C	ENSP00000496611.1:p.Pro998=
ENST00000644335.1:c.2997G>C	ENSP00000496317.1:p.Pro999=
ENST00000644399.1:c.3116G>C
ENST00000644722.1:n.272G>C
ENST00000645024.1:n.1279G>C
ENST00000646388.1:c.3126G>C	ENSP00000495921.1:p.Pro1042=
ENST00000646634.1:n.2010G>C
ENST00000647042.1:n.418G>C
ENST00000219476.7:c.3126G>C	ENSP00000219476.3:p.Pro1042=
ENST00000350773.8:c.3126G>C	ENSP00000344383.4:p.Pro1042=
ENST00000382538.10:c.2850G>C	ENSP00000371978.6:p.Pro950=
ENST00000401874.6:c.2994G>C	ENSP00000384468.2:p.Pro998=
ENST00000439117.6:c.*2293G>C	ENSP00000406980.2:n.*2293G>C
ENST00000439673.6:c.2886G>C	ENSP00000399232.2:p.Pro962=
ENST00000471143.5:c.352G>C
ENST00000483020.5:c.366G>C	ENSP00000460310.1:n.366G>C
ENST00000497886.5:n.953G>C
ENST00000561695.1:n.272G>C
ENST00000568366.5:n.483G>C
ENST00000568454.5:c.3027G>C	ENSP00000454487.1:p.Pro1009=
NM_000548.3:c.3126G>C , LRG_487t1:c.3126G>C	NP_000539.2:p.Pro1042=
NM_001077183.1:c.2994G>C	NP_001070651.1:p.Pro998=
NM_001114382.1:c.3126G>C	NP_001107854.1:p.Pro1042=
XM_005255529.3:c.2997G>C	XP_005255586.2:p.Pro999=
XM_005255531.3:c.2997G>C	XP_005255588.2:p.Pro999=
XM_011522636.1:c.3126G>C	XP_011520938.1:p.Pro1042=
XM_011522637.1:c.3123G>C	XP_011520939.1:p.Pro1041=
XM_011522638.1:c.3015G>C	XP_011520940.1:p.Pro1005=
XM_011522639.1:c.2997G>C	XP_011520941.1:p.Pro999=
XM_011522640.1:c.2994G>C	XP_011520942.1:p.Pro998=
XM_011522641.1:c.2886G>C	XP_011520943.1:p.Pro962=
NM_000548.4:c.3126G>C	NP_000539.2:p.Pro1042=
NM_001077183.2:c.2994G>C	NP_001070651.1:p.Pro998=
NM_001114382.2:c.3126G>C	NP_001107854.1:p.Pro1042=
NM_001318827.1:c.2886G>C	NP_001305756.1:p.Pro962=
NM_001318829.1:c.2850G>C	NP_001305758.1:p.Pro950=
NM_001318831.1:c.2394G>C	NP_001305760.1:p.Pro798=
NM_001318832.1:c.3027G>C	NP_001305761.1:p.Pro1009=
NM_001363528.1:c.2997G>C	NP_001350457.1:p.Pro999=
NM_021055.2:c.2997G>C	NP_066399.2:p.Pro999=
XM_005255531.4:c.2997G>C	XP_005255588.2:p.Pro999=
XM_011522636.2:c.3126G>C	XP_011520938.1:p.Pro1042=
XM_011522637.2:c.3123G>C	XP_011520939.1:p.Pro1041=
XM_011522638.2:c.3288G>C	XP_011520940.2:p.Pro1096=
XM_011522639.2:c.2997G>C	XP_011520941.1:p.Pro999=
XM_011522640.2:c.2994G>C	XP_011520942.1:p.Pro998=
XM_017023615.1:c.3123G>C	XP_016879104.1:p.Pro1041=
XM_017023616.1:c.2994G>C	XP_016879105.1:p.Pro998=
XM_017023617.1:c.3159G>C	XP_016879106.1:p.Pro1053=
XM_017023618.1:c.1782G>C	XP_016879107.1:p.Pro594=
XM_024450413.1:c.2994G>C	XP_024306181.1:p.Pro998=
NM_000548.5:c.3126G>C MANE Select	NP_000539.2:p.Pro1042=
NM_001370404.1:c.2994G>C	NP_001357333.1:p.Pro998=
NM_001370405.1:c.2997G>C	NP_001357334.1:p.Pro999=
NM_001077183.3:c.2994G>C	NP_001070651.1:p.Pro998=
NM_001114382.3:c.3126G>C	NP_001107854.1:p.Pro1042=
NM_001318827.2:c.2886G>C	NP_001305756.1:p.Pro962=
NM_001318829.2:c.2850G>C	NP_001305758.1:p.Pro950=
NM_001318831.2:c.2394G>C	NP_001305760.1:p.Pro798=
NM_001318832.2:c.3027G>C	NP_001305761.1:p.Pro1009=
NM_001363528.2:c.2997G>C	NP_001350457.1:p.Pro999=
NM_021055.3:c.2997G>C	NP_066399.2:p.Pro999=