Canonical Allele Identifier: CA019429

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50150
• ClinVar RCV Id: RCV000043418
• dbSNP Id: rs137854224
• MyVariant Identifiers: chr16:g.2131628_2131629insTG (hg19) ; chr16:g.2081627_2081628insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081627_2081628insTG , CM000678.2:g.2081627_2081628insTG	GRCh38
NC_000016.9:g.2131628_2131629insTG , CM000678.1:g.2131628_2131629insTG	GRCh37
NC_000016.8:g.2071629_2071630insTG	NCBI36
NG_005895.1:g.37322_37323insTG , LRG_487:g.37322_37323insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2061_*2062insTG	ENSP00000455997.2:n.*2061_*2062insTG
ENST00000642206.2:c.3559_3560insTG	ENSP00000495146.2:p.Pro1187LeufsTer?
ENST00000642365.2:c.3640_3641insTG	ENSP00000495459.2:p.Pro1214LeufsTer?
ENST00000644417.2:c.*4092_*4093insTG	ENSP00000493912.2:n.*4092_*4093insTG
ENST00000646464.2:c.*4565_*4566insTG	ENSP00000496610.2:n.*4565_*4566insTG
ENST00000219476.9:c.3643_3644insTG MANE Select	ENSP00000219476.3:p.Pro1215LeufsTer?
ENST00000350773.9:c.3643_3644insTG	ENSP00000344383.4:p.Pro1215LeufsTer?
ENST00000401874.7:c.3511_3512insTG	ENSP00000384468.2:p.Pro1171LeufsTer?
ENST00000568454.6:c.3544_3545insTG	ENSP00000454487.1:p.Pro1182LeufsTer?
ENST00000642365.1:c.2297_2298insTG
ENST00000642561.1:c.3514_3515insTG	ENSP00000495099.1:p.Pro1172LeufsTer?
ENST00000642797.1:c.3514_3515insTG	ENSP00000493846.1:p.Pro1172LeufsTer?
ENST00000642936.1:c.3511_3512insTG	ENSP00000494514.1:p.Pro1171LeufsTer?
ENST00000643088.1:c.3511_3512insTG	ENSP00000494747.1:p.Pro1171LeufsTer?
ENST00000643426.1:n.1291_1292insTG
ENST00000643533.1:n.153_154insTG
ENST00000643946.1:c.3643_3644insTG	ENSP00000495927.1:p.Pro1215LeufsTer?
ENST00000644043.1:c.3514_3515insTG	ENSP00000496262.1:p.Pro1172LeufsTer?
ENST00000644329.1:c.3511_3512insTG	ENSP00000496611.1:p.Pro1171LeufsTer?
ENST00000644335.1:c.3514_3515insTG	ENSP00000496317.1:p.Pro1172LeufsTer?
ENST00000644399.1:c.3633_3634insTG
ENST00000644722.1:n.789_790insTG
ENST00000645024.1:n.1796_1797insTG
ENST00000646388.1:c.3643_3644insTG	ENSP00000495921.1:p.Pro1215LeufsTer?
ENST00000646634.1:n.2527_2528insTG
ENST00000646674.1:n.258_259insTG
ENST00000647042.1:n.935_936insTG
ENST00000647180.1:n.123_124insTG
ENST00000219476.7:c.3643_3644insTG	ENSP00000219476.3:p.Pro1215LeufsTer?
ENST00000350773.8:c.3643_3644insTG	ENSP00000344383.4:p.Pro1215LeufsTer?
ENST00000382538.10:c.3367_3368insTG	ENSP00000371978.6:p.Pro1123LeufsTer?
ENST00000401874.6:c.3511_3512insTG	ENSP00000384468.2:p.Pro1171LeufsTer?
ENST00000439117.6:c.*2810_*2811insTG	ENSP00000406980.2:n.*2810_*2811insTG
ENST00000439673.6:c.3403_3404insTG	ENSP00000399232.2:p.Pro1135LeufsTer?
ENST00000497886.5:n.1470_1471insTG
ENST00000568454.5:c.3544_3545insTG	ENSP00000454487.1:p.Pro1182LeufsTer?
NM_000548.3:c.3643_3644insTG , LRG_487t1:c.3643_3644insTG	NP_000539.2:p.Pro1215LeufsTer?
NM_001077183.1:c.3511_3512insTG	NP_001070651.1:p.Pro1171LeufsTer?
NM_001114382.1:c.3643_3644insTG	NP_001107854.1:p.Pro1215LeufsTer?
XM_005255529.3:c.3514_3515insTG	XP_005255586.2:p.Pro1172LeufsTer?
XM_005255531.3:c.3514_3515insTG	XP_005255588.2:p.Pro1172LeufsTer?
XM_011522636.1:c.3643_3644insTG	XP_011520938.1:p.Pro1215LeufsTer?
XM_011522637.1:c.3640_3641insTG	XP_011520939.1:p.Pro1214LeufsTer?
XM_011522638.1:c.3532_3533insTG	XP_011520940.1:p.Pro1178LeufsTer?
XM_011522639.1:c.3514_3515insTG	XP_011520941.1:p.Pro1172LeufsTer?
XM_011522640.1:c.3511_3512insTG	XP_011520942.1:p.Pro1171LeufsTer?
XM_011522641.1:c.3403_3404insTG	XP_011520943.1:p.Pro1135LeufsTer?
NM_000548.4:c.3643_3644insTG	NP_000539.2:p.Pro1215LeufsTer?
NM_001077183.2:c.3511_3512insTG	NP_001070651.1:p.Pro1171LeufsTer?
NM_001114382.2:c.3643_3644insTG	NP_001107854.1:p.Pro1215LeufsTer?
NM_001318827.1:c.3403_3404insTG	NP_001305756.1:p.Pro1135LeufsTer?
NM_001318829.1:c.3367_3368insTG	NP_001305758.1:p.Pro1123LeufsTer?
NM_001318831.1:c.2911_2912insTG	NP_001305760.1:p.Pro971LeufsTer?
NM_001318832.1:c.3544_3545insTG	NP_001305761.1:p.Pro1182LeufsTer?
NM_001363528.1:c.3514_3515insTG	NP_001350457.1:p.Pro1172LeufsTer?
NM_021055.2:c.3514_3515insTG	NP_066399.2:p.Pro1172LeufsTer?
XM_005255531.4:c.3514_3515insTG	XP_005255588.2:p.Pro1172LeufsTer?
XM_011522636.2:c.3643_3644insTG	XP_011520938.1:p.Pro1215LeufsTer?
XM_011522637.2:c.3640_3641insTG	XP_011520939.1:p.Pro1214LeufsTer?
XM_011522638.2:c.3805_3806insTG	XP_011520940.2:p.Pro1269LeufsTer?
XM_011522639.2:c.3514_3515insTG	XP_011520941.1:p.Pro1172LeufsTer?
XM_011522640.2:c.3511_3512insTG	XP_011520942.1:p.Pro1171LeufsTer?
XM_017023615.1:c.3640_3641insTG	XP_016879104.1:p.Pro1214LeufsTer?
XM_017023616.1:c.3511_3512insTG	XP_016879105.1:p.Pro1171LeufsTer?
XM_017023617.1:c.3676_3677insTG	XP_016879106.1:p.Pro1226LeufsTer?
XM_017023618.1:c.2299_2300insTG	XP_016879107.1:p.Pro767LeufsTer?
XM_024450413.1:c.3511_3512insTG	XP_024306181.1:p.Pro1171LeufsTer?
NM_000548.5:c.3643_3644insTG MANE Select	NP_000539.2:p.Pro1215LeufsTer?
NM_001370404.1:c.3511_3512insTG	NP_001357333.1:p.Pro1171LeufsTer?
NM_001370405.1:c.3514_3515insTG	NP_001357334.1:p.Pro1172LeufsTer?
NM_001077183.3:c.3511_3512insTG	NP_001070651.1:p.Pro1171LeufsTer?
NM_001114382.3:c.3643_3644insTG	NP_001107854.1:p.Pro1215LeufsTer?
NM_001318827.2:c.3403_3404insTG	NP_001305756.1:p.Pro1135LeufsTer?
NM_001318829.2:c.3367_3368insTG	NP_001305758.1:p.Pro1123LeufsTer?
NM_001318831.2:c.2911_2912insTG	NP_001305760.1:p.Pro971LeufsTer?
NM_001318832.2:c.3544_3545insTG	NP_001305761.1:p.Pro1182LeufsTer?
NM_001363528.2:c.3514_3515insTG	NP_001350457.1:p.Pro1172LeufsTer?
NM_021055.3:c.3514_3515insTG	NP_066399.2:p.Pro1172LeufsTer?