Canonical Allele Identifier: CA10648006

Gene: TSC2

Linked Data

• ClinVar Variation Id: 318303
• ClinVar RCV Id: RCV000363904 ; RCV001544992
• dbSNP Id: rs563544506
• gnomAD v2: 16-2098031-G-C
• gnomAD v3: 16-2048030-G-C
• gnomAD v4: 16-2048030-G-C
• MyVariant Identifiers: chr16:g.2098031G>C (hg19) ; chr16:g.2048030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2048030G>C , CM000678.2:g.2048030G>C	GRCh38
NC_000016.9:g.2098031G>C , CM000678.1:g.2098031G>C	GRCh37
NC_000016.8:g.2038032G>C	NCBI36
NG_005895.1:g.3725G>C , LRG_487:g.3725G>C
NG_008412.1:g.4837C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.-65G>C	ENSP00000455997.2:n.-65G>C
ENST00000642206.2:c.-65G>C	ENSP00000495146.2:n.-65G>C
ENST00000642365.2:c.-65G>C	ENSP00000495459.2:n.-65G>C
ENST00000644417.2:c.-65G>C	ENSP00000493912.2:n.-65G>C
ENST00000646464.2:c.-65G>C	ENSP00000496610.2:n.-65G>C
ENST00000219476.9:c.-65G>C MANE Select	ENSP00000219476.3:n.-65G>C
ENST00000350773.9:c.-65G>C	ENSP00000344383.4:n.-65G>C
ENST00000401874.7:c.-65G>C	ENSP00000384468.2:n.-65G>C
ENST00000461648.3:n.46G>C
ENST00000642206.1:c.-65G>C	ENSP00000495146.1:n.-65G>C
ENST00000642936.1:c.-65G>C	ENSP00000494514.1:n.-65G>C
ENST00000643088.1:c.-65G>C	ENSP00000494747.1:n.-65G>C
ENST00000643149.1:n.46G>C
ENST00000643298.1:c.-65G>C	ENSP00000494393.1:n.-65G>C
ENST00000643745.1:c.-65G>C	ENSP00000495948.1:n.-65G>C
ENST00000643946.1:c.-65G>C	ENSP00000495927.1:n.-65G>C
ENST00000644135.1:c.-65G>C	ENSP00000495644.1:n.-65G>C
ENST00000644222.1:n.23G>C
ENST00000644335.1:c.-65G>C	ENSP00000496317.1:n.-65G>C
ENST00000644665.1:n.53G>C
ENST00000645591.1:n.64G>C
ENST00000646388.1:c.-65G>C	ENSP00000495921.1:n.-65G>C
ENST00000219476.7:c.-65G>C	ENSP00000219476.3:n.-65G>C
ENST00000350773.8:c.-65G>C	ENSP00000344383.4:n.-65G>C
ENST00000382538.10:c.-45G>C	ENSP00000371978.6:n.-45G>C
ENST00000401874.6:c.-65G>C	ENSP00000384468.2:n.-65G>C
ENST00000439673.6:c.-65G>C	ENSP00000399232.2:n.-65G>C
ENST00000461648.2:n.41G>C
NM_000548.3:c.-65G>C , LRG_487t1:c.-65G>C	NP_000539.2:n.-65G>C
NM_001077183.1:c.-65G>C	NP_001070651.1:n.-65G>C
NM_001114382.1:c.-65G>C	NP_001107854.1:n.-65G>C
XM_005255529.3:c.-65G>C	XP_005255586.2:n.-65G>C
XM_005255531.3:c.-65G>C	XP_005255588.2:n.-65G>C
XM_011522636.1:c.-65G>C	XP_011520938.1:n.-65G>C
XM_011522637.1:c.-65G>C	XP_011520939.1:n.-65G>C
XM_011522638.1:c.-65G>C	XP_011520940.1:n.-65G>C
XM_011522639.1:c.-65G>C	XP_011520941.1:n.-65G>C
XM_011522640.1:c.-65G>C	XP_011520942.1:n.-65G>C
XM_011522641.1:c.-65G>C	XP_011520943.1:n.-65G>C
NM_000548.4:c.-65G>C	NP_000539.2:n.-65G>C
NM_001077183.2:c.-65G>C	NP_001070651.1:n.-65G>C
NM_001114382.2:c.-65G>C	NP_001107854.1:n.-65G>C
NM_001318827.1:c.-65G>C	NP_001305756.1:n.-65G>C
NM_001318829.1:c.-45G>C	NP_001305758.1:n.-45G>C
NM_001318831.1:c.-291G>C	NP_001305760.1:n.-291G>C
NM_001363528.1:c.-65G>C	NP_001350457.1:n.-65G>C
NM_021055.2:c.-65G>C	NP_066399.2:n.-65G>C
XM_005255531.4:c.-65G>C	XP_005255588.2:n.-65G>C
XM_011522636.2:c.-65G>C	XP_011520938.1:n.-65G>C
XM_011522637.2:c.-65G>C	XP_011520939.1:n.-65G>C
XM_011522638.2:c.209G>C	XP_011520940.2:p.Arg70Pro
XM_011522639.2:c.-65G>C	XP_011520941.1:n.-65G>C
XM_011522640.2:c.-65G>C	XP_011520942.1:n.-65G>C
XM_017023615.1:c.-65G>C	XP_016879104.1:n.-65G>C
XM_017023616.1:c.-65G>C	XP_016879105.1:n.-65G>C
XM_017023617.1:c.209G>C	XP_016879106.1:p.Arg70Pro
XM_017023618.1:c.-1496G>C	XP_016879107.1:n.-1496G>C
XM_024450413.1:c.-65G>C	XP_024306181.1:n.-65G>C
NM_000548.5:c.-65G>C MANE Select	NP_000539.2:n.-65G>C
NM_001370404.1:c.-65G>C	NP_001357333.1:n.-65G>C
NM_001370405.1:c.-65G>C	NP_001357334.1:n.-65G>C
NM_001077183.3:c.-65G>C	NP_001070651.1:n.-65G>C
NM_001114382.3:c.-65G>C	NP_001107854.1:n.-65G>C
NM_001318827.2:c.-65G>C	NP_001305756.1:n.-65G>C
NM_001318829.2:c.-45G>C	NP_001305758.1:n.-45G>C
NM_001318831.2:c.-291G>C	NP_001305760.1:n.-291G>C
NM_001363528.2:c.-65G>C	NP_001350457.1:n.-65G>C
NM_021055.3:c.-65G>C	NP_066399.2:n.-65G>C