Canonical Allele Identifier: CA319595

Gene: TSC2

Linked Data

• ClinVar Variation Id: 207784
• ClinVar RCV Id: RCV000190077 ; RCV000644198 ; RCV002453704
• dbSNP Id: rs796053513
• gnomAD v4: 16-2080192-T-C
• MyVariant Identifiers: chr16:g.2130193T>C (hg19) ; chr16:g.2080192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2080192T>C , CM000678.2:g.2080192T>C	GRCh38
NC_000016.9:g.2130193T>C , CM000678.1:g.2130193T>C	GRCh37
NC_000016.8:g.2070194T>C	NCBI36
NG_005895.1:g.35887T>C , LRG_487:g.35887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1843T>C	ENSP00000455997.2:n.*1843T>C
ENST00000642206.2:c.3341T>C	ENSP00000495146.2:p.Leu1114Pro
ENST00000642365.2:c.3422T>C	ENSP00000495459.2:p.Leu1141Pro
ENST00000644417.2:c.*3874T>C	ENSP00000493912.2:n.*3874T>C
ENST00000646464.2:c.*4347T>C	ENSP00000496610.2:n.*4347T>C
ENST00000219476.9:c.3425T>C MANE Select	ENSP00000219476.3:p.Leu1142Pro
ENST00000350773.9:c.3425T>C	ENSP00000344383.4:p.Leu1142Pro
ENST00000401874.7:c.3293T>C	ENSP00000384468.2:p.Leu1098Pro
ENST00000568454.6:c.3326T>C	ENSP00000454487.1:p.Leu1109Pro
ENST00000642365.1:c.2079T>C
ENST00000642561.1:c.3296T>C	ENSP00000495099.1:p.Leu1099Pro
ENST00000642797.1:c.3296T>C	ENSP00000493846.1:p.Leu1099Pro
ENST00000642936.1:c.3293T>C	ENSP00000494514.1:p.Leu1098Pro
ENST00000643088.1:c.3293T>C	ENSP00000494747.1:p.Leu1098Pro
ENST00000643946.1:c.3425T>C	ENSP00000495927.1:p.Leu1142Pro
ENST00000644043.1:c.3296T>C	ENSP00000496262.1:p.Leu1099Pro
ENST00000644329.1:c.3293T>C	ENSP00000496611.1:p.Leu1098Pro
ENST00000644335.1:c.3296T>C	ENSP00000496317.1:p.Leu1099Pro
ENST00000644399.1:c.3415T>C
ENST00000644722.1:n.571T>C
ENST00000645024.1:n.1578T>C
ENST00000646388.1:c.3425T>C	ENSP00000495921.1:p.Leu1142Pro
ENST00000646634.1:n.2309T>C
ENST00000646674.1:n.40T>C
ENST00000647042.1:n.717T>C
ENST00000219476.7:c.3425T>C	ENSP00000219476.3:p.Leu1142Pro
ENST00000350773.8:c.3425T>C	ENSP00000344383.4:p.Leu1142Pro
ENST00000382538.10:c.3149T>C	ENSP00000371978.6:p.Leu1050Pro
ENST00000401874.6:c.3293T>C	ENSP00000384468.2:p.Leu1098Pro
ENST00000439117.6:c.*2592T>C	ENSP00000406980.2:n.*2592T>C
ENST00000439673.6:c.3185T>C	ENSP00000399232.2:p.Leu1062Pro
ENST00000497886.5:n.1252T>C
ENST00000568454.5:c.3326T>C	ENSP00000454487.1:p.Leu1109Pro
NM_000548.3:c.3425T>C , LRG_487t1:c.3425T>C	NP_000539.2:p.Leu1142Pro
NM_001077183.1:c.3293T>C	NP_001070651.1:p.Leu1098Pro
NM_001114382.1:c.3425T>C	NP_001107854.1:p.Leu1142Pro
XM_005255529.3:c.3296T>C	XP_005255586.2:p.Leu1099Pro
XM_005255531.3:c.3296T>C	XP_005255588.2:p.Leu1099Pro
XM_011522636.1:c.3425T>C	XP_011520938.1:p.Leu1142Pro
XM_011522637.1:c.3422T>C	XP_011520939.1:p.Leu1141Pro
XM_011522638.1:c.3314T>C	XP_011520940.1:p.Leu1105Pro
XM_011522639.1:c.3296T>C	XP_011520941.1:p.Leu1099Pro
XM_011522640.1:c.3293T>C	XP_011520942.1:p.Leu1098Pro
XM_011522641.1:c.3185T>C	XP_011520943.1:p.Leu1062Pro
NM_000548.4:c.3425T>C	NP_000539.2:p.Leu1142Pro
NM_001077183.2:c.3293T>C	NP_001070651.1:p.Leu1098Pro
NM_001114382.2:c.3425T>C	NP_001107854.1:p.Leu1142Pro
NM_001318827.1:c.3185T>C	NP_001305756.1:p.Leu1062Pro
NM_001318829.1:c.3149T>C	NP_001305758.1:p.Leu1050Pro
NM_001318831.1:c.2693T>C	NP_001305760.1:p.Leu898Pro
NM_001318832.1:c.3326T>C	NP_001305761.1:p.Leu1109Pro
NM_001363528.1:c.3296T>C	NP_001350457.1:p.Leu1099Pro
NM_021055.2:c.3296T>C	NP_066399.2:p.Leu1099Pro
XM_005255531.4:c.3296T>C	XP_005255588.2:p.Leu1099Pro
XM_011522636.2:c.3425T>C	XP_011520938.1:p.Leu1142Pro
XM_011522637.2:c.3422T>C	XP_011520939.1:p.Leu1141Pro
XM_011522638.2:c.3587T>C	XP_011520940.2:p.Leu1196Pro
XM_011522639.2:c.3296T>C	XP_011520941.1:p.Leu1099Pro
XM_011522640.2:c.3293T>C	XP_011520942.1:p.Leu1098Pro
XM_017023615.1:c.3422T>C	XP_016879104.1:p.Leu1141Pro
XM_017023616.1:c.3293T>C	XP_016879105.1:p.Leu1098Pro
XM_017023617.1:c.3458T>C	XP_016879106.1:p.Leu1153Pro
XM_017023618.1:c.2081T>C	XP_016879107.1:p.Leu694Pro
XM_024450413.1:c.3293T>C	XP_024306181.1:p.Leu1098Pro
NM_000548.5:c.3425T>C MANE Select	NP_000539.2:p.Leu1142Pro
NM_001370404.1:c.3293T>C	NP_001357333.1:p.Leu1098Pro
NM_001370405.1:c.3296T>C	NP_001357334.1:p.Leu1099Pro
NM_001077183.3:c.3293T>C	NP_001070651.1:p.Leu1098Pro
NM_001114382.3:c.3425T>C	NP_001107854.1:p.Leu1142Pro
NM_001318827.2:c.3185T>C	NP_001305756.1:p.Leu1062Pro
NM_001318829.2:c.3149T>C	NP_001305758.1:p.Leu1050Pro
NM_001318831.2:c.2693T>C	NP_001305760.1:p.Leu898Pro
NM_001318832.2:c.3326T>C	NP_001305761.1:p.Leu1109Pro
NM_001363528.2:c.3296T>C	NP_001350457.1:p.Leu1099Pro
NM_021055.3:c.3296T>C	NP_066399.2:p.Leu1099Pro