Canonical Allele Identifier: CA394299111

Gene: TSC2

Linked Data

• ClinVar Variation Id: 805698
• ClinVar RCV Id: RCV000993371 ; RCV003512094
• dbSNP Id: rs1085307853
• MyVariant Identifiers: chr16:g.2134228G>C (hg19) ; chr16:g.2084227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084227G>C , CM000678.2:g.2084227G>C	GRCh38
NC_000016.9:g.2134228G>C , CM000678.1:g.2134228G>C	GRCh37
NC_000016.8:g.2074229G>C	NCBI36
NG_005895.1:g.39922G>C , LRG_487:g.39922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2355-1G>C	ENSP00000455997.2:n.*2355-1G>C
ENST00000642206.2:c.3853-1G>C	ENSP00000495146.2:n.3853-1G>C
ENST00000642365.2:c.4003-1G>C	ENSP00000495459.2:n.4003-1G>C
ENST00000644417.2:c.*4386-1G>C	ENSP00000493912.2:n.*4386-1G>C
ENST00000646464.2:c.*6755-1G>C	ENSP00000496610.2:n.*6755-1G>C
ENST00000219476.9:c.4006-1G>C MANE Select	ENSP00000219476.3:n.4006-1G>C
ENST00000350773.9:c.3937-1G>C	ENSP00000344383.4:n.3937-1G>C
ENST00000401874.7:c.3805-1G>C	ENSP00000384468.2:n.3805-1G>C
ENST00000568454.6:c.3838-1G>C	ENSP00000454487.1:n.3838-1G>C
ENST00000569110.2:c.242-1G>C
ENST00000569930.2:n.1888-1G>C
ENST00000642365.1:c.2660-1G>C
ENST00000642561.1:c.3877-1G>C	ENSP00000495099.1:n.3877-1G>C
ENST00000642728.1:n.188-1G>C
ENST00000642797.1:c.3808-1G>C	ENSP00000493846.1:n.3808-1G>C
ENST00000642936.1:c.3874-1G>C	ENSP00000494514.1:n.3874-1G>C
ENST00000643088.1:c.3805-1G>C	ENSP00000494747.1:n.3805-1G>C
ENST00000643177.1:n.20-1G>C
ENST00000643426.1:n.1654-1G>C
ENST00000643533.1:n.447-1G>C
ENST00000643946.1:c.3937-1G>C	ENSP00000495927.1:n.3937-1G>C
ENST00000644043.1:c.3877-1G>C	ENSP00000496262.1:n.3877-1G>C
ENST00000644329.1:c.3805-1G>C	ENSP00000496611.1:n.3805-1G>C
ENST00000644335.1:c.3808-1G>C	ENSP00000496317.1:n.3808-1G>C
ENST00000644399.1:c.3927-1G>C
ENST00000645024.1:n.2090-1G>C
ENST00000645186.1:c.249-1G>C
ENST00000646388.1:c.4006-1G>C	ENSP00000495921.1:n.4006-1G>C
ENST00000646634.1:n.2821-1G>C
ENST00000646674.1:n.1258-1G>C
ENST00000647042.1:n.1229-1G>C
ENST00000647180.1:n.1119-1G>C
ENST00000219476.7:c.4006-1G>C	ENSP00000219476.3:n.4006-1G>C
ENST00000350773.8:c.3937-1G>C	ENSP00000344383.4:n.3937-1G>C
ENST00000382538.10:c.3661-1G>C	ENSP00000371978.6:n.3661-1G>C
ENST00000401874.6:c.3805-1G>C	ENSP00000384468.2:n.3805-1G>C
ENST00000439117.6:c.*3173-1G>C	ENSP00000406980.2:n.*3173-1G>C
ENST00000439673.6:c.3697-1G>C	ENSP00000399232.2:n.3697-1G>C
ENST00000497886.5:n.1764-1G>C
ENST00000568454.5:c.3838-1G>C	ENSP00000454487.1:n.3838-1G>C
ENST00000569110.1:c.188-1G>C
ENST00000569930.1:n.1121-1G>C
NM_000548.3:c.4006-1G>C , LRG_487t1:c.4006-1G>C	NP_000539.2:n.4006-1G>C
NM_001077183.1:c.3805-1G>C	NP_001070651.1:n.3805-1G>C
NM_001114382.1:c.3937-1G>C	NP_001107854.1:n.3937-1G>C
XM_005255529.3:c.3877-1G>C	XP_005255586.2:n.3877-1G>C
XM_005255531.3:c.3808-1G>C	XP_005255588.2:n.3808-1G>C
XM_011522636.1:c.4060-1G>C	XP_011520938.1:n.4060-1G>C
XM_011522637.1:c.4057-1G>C	XP_011520939.1:n.4057-1G>C
XM_011522638.1:c.3949-1G>C	XP_011520940.1:n.3949-1G>C
XM_011522639.1:c.3931-1G>C	XP_011520941.1:n.3931-1G>C
XM_011522640.1:c.3928-1G>C	XP_011520942.1:n.3928-1G>C
XM_011522641.1:c.3697-1G>C	XP_011520943.1:n.3697-1G>C
NM_000548.4:c.4006-1G>C	NP_000539.2:n.4006-1G>C
NM_001077183.2:c.3805-1G>C	NP_001070651.1:n.3805-1G>C
NM_001114382.2:c.3937-1G>C	NP_001107854.1:n.3937-1G>C
NM_001318827.1:c.3697-1G>C	NP_001305756.1:n.3697-1G>C
NM_001318829.1:c.3661-1G>C	NP_001305758.1:n.3661-1G>C
NM_001318831.1:c.3274-1G>C	NP_001305760.1:n.3274-1G>C
NM_001318832.1:c.3838-1G>C	NP_001305761.1:n.3838-1G>C
NM_001363528.1:c.3808-1G>C	NP_001350457.1:n.3808-1G>C
NM_021055.2:c.3877-1G>C	NP_066399.2:n.3877-1G>C
XM_005255531.4:c.3808-1G>C	XP_005255588.2:n.3808-1G>C
XM_011522636.2:c.4060-1G>C	XP_011520938.1:n.4060-1G>C
XM_011522637.2:c.4057-1G>C	XP_011520939.1:n.4057-1G>C
XM_011522638.2:c.4222-1G>C	XP_011520940.2:n.4222-1G>C
XM_011522639.2:c.3931-1G>C	XP_011520941.1:n.3931-1G>C
XM_011522640.2:c.3928-1G>C	XP_011520942.1:n.3928-1G>C
XM_017023615.1:c.4003-1G>C	XP_016879104.1:n.4003-1G>C
XM_017023616.1:c.3874-1G>C	XP_016879105.1:n.3874-1G>C
XM_017023617.1:c.3970-1G>C	XP_016879106.1:n.3970-1G>C
XM_017023618.1:c.2716-1G>C	XP_016879107.1:n.2716-1G>C
XM_024450413.1:c.3805-1G>C	XP_024306181.1:n.3805-1G>C
NM_000548.5:c.4006-1G>C MANE Select	NP_000539.2:n.4006-1G>C
NM_001370404.1:c.3874-1G>C	NP_001357333.1:n.3874-1G>C
NM_001370405.1:c.3877-1G>C	NP_001357334.1:n.3877-1G>C
NM_001077183.3:c.3805-1G>C	NP_001070651.1:n.3805-1G>C
NM_001114382.3:c.3937-1G>C	NP_001107854.1:n.3937-1G>C
NM_001318827.2:c.3697-1G>C	NP_001305756.1:n.3697-1G>C
NM_001318829.2:c.3661-1G>C	NP_001305758.1:n.3661-1G>C
NM_001318831.2:c.3274-1G>C	NP_001305760.1:n.3274-1G>C
NM_001318832.2:c.3838-1G>C	NP_001305761.1:n.3838-1G>C
NM_001363528.2:c.3808-1G>C	NP_001350457.1:n.3808-1G>C
NM_021055.3:c.3877-1G>C	NP_066399.2:n.3877-1G>C