Canonical Allele Identifier: CA10583333

Gene: TSC2

Linked Data

• ClinVar Variation Id: 238049
• ClinVar RCV Id: RCV000229715 ; RCV002327111 ; RCV003998829
• dbSNP Id: rs878854106
• gnomAD v2: 16-2134648-A-C
• gnomAD v3: 16-2084647-A-C
• gnomAD v4: 16-2084647-A-C
• MyVariant Identifiers: chr16:g.2134648A>C (hg19) ; chr16:g.2084647A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084647A>C , CM000678.2:g.2084647A>C	GRCh38
NC_000016.9:g.2134648A>C , CM000678.1:g.2134648A>C	GRCh37
NC_000016.8:g.2074649A>C	NCBI36
NG_005895.1:g.40342A>C , LRG_487:g.40342A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2774A>C	ENSP00000455997.2:n.*2774A>C
ENST00000642206.2:c.4272A>C	ENSP00000495146.2:p.Val1424=
ENST00000642365.2:c.4422A>C	ENSP00000495459.2:p.Val1474=
ENST00000644417.2:c.*4805A>C	ENSP00000493912.2:n.*4805A>C
ENST00000646464.2:c.*7174A>C	ENSP00000496610.2:n.*7174A>C
ENST00000219476.9:c.4425A>C MANE Select	ENSP00000219476.3:p.Val1475=
ENST00000350773.9:c.4356A>C	ENSP00000344383.4:p.Val1452=
ENST00000401874.7:c.4224A>C	ENSP00000384468.2:p.Val1408=
ENST00000568454.6:c.4257A>C	ENSP00000454487.1:p.Val1419=
ENST00000569110.2:c.661A>C
ENST00000569930.2:n.2307A>C
ENST00000642365.1:c.3079A>C
ENST00000642561.1:c.4296A>C	ENSP00000495099.1:p.Val1432=
ENST00000642728.1:n.607A>C
ENST00000642797.1:c.4227A>C	ENSP00000493846.1:p.Val1409=
ENST00000642936.1:c.4293A>C	ENSP00000494514.1:p.Val1431=
ENST00000643088.1:c.4224A>C	ENSP00000494747.1:p.Val1408=
ENST00000643177.1:n.439A>C
ENST00000643426.1:n.2073A>C
ENST00000643946.1:c.4356A>C	ENSP00000495927.1:p.Val1452=
ENST00000644043.1:c.4296A>C	ENSP00000496262.1:p.Val1432=
ENST00000644329.1:c.4224A>C	ENSP00000496611.1:p.Val1408=
ENST00000644335.1:c.4227A>C	ENSP00000496317.1:p.Val1409=
ENST00000644399.1:c.4346A>C
ENST00000645024.1:n.2509A>C
ENST00000646388.1:c.4425A>C	ENSP00000495921.1:p.Val1475=
ENST00000646634.1:n.3240A>C
ENST00000646674.1:n.1677A>C
ENST00000647042.1:n.1648A>C
ENST00000647180.1:n.1538A>C
ENST00000219476.7:c.4425A>C	ENSP00000219476.3:p.Val1475=
ENST00000350773.8:c.4356A>C	ENSP00000344383.4:p.Val1452=
ENST00000382538.10:c.4080A>C	ENSP00000371978.6:p.Val1360=
ENST00000401874.6:c.4224A>C	ENSP00000384468.2:p.Val1408=
ENST00000439117.6:c.*3592A>C	ENSP00000406980.2:n.*3592A>C
ENST00000439673.6:c.4116A>C	ENSP00000399232.2:p.Val1372=
ENST00000497886.5:n.2183A>C
ENST00000568454.5:c.4257A>C	ENSP00000454487.1:p.Val1419=
ENST00000569110.1:c.607A>C
ENST00000569930.1:n.1540A>C
NM_000548.3:c.4425A>C , LRG_487t1:c.4425A>C	NP_000539.2:p.Val1475=
NM_001077183.1:c.4224A>C	NP_001070651.1:p.Val1408=
NM_001114382.1:c.4356A>C	NP_001107854.1:p.Val1452=
XM_005255529.3:c.4296A>C	XP_005255586.2:p.Val1432=
XM_005255531.3:c.4227A>C	XP_005255588.2:p.Val1409=
XM_011522636.1:c.4479A>C	XP_011520938.1:p.Val1493=
XM_011522637.1:c.4476A>C	XP_011520939.1:p.Val1492=
XM_011522638.1:c.4368A>C	XP_011520940.1:p.Val1456=
XM_011522639.1:c.4350A>C	XP_011520941.1:p.Val1450=
XM_011522640.1:c.4347A>C	XP_011520942.1:p.Val1449=
XM_011522641.1:c.4116A>C	XP_011520943.1:p.Val1372=
NM_000548.4:c.4425A>C	NP_000539.2:p.Val1475=
NM_001077183.2:c.4224A>C	NP_001070651.1:p.Val1408=
NM_001114382.2:c.4356A>C	NP_001107854.1:p.Val1452=
NM_001318827.1:c.4116A>C	NP_001305756.1:p.Val1372=
NM_001318829.1:c.4080A>C	NP_001305758.1:p.Val1360=
NM_001318831.1:c.3693A>C	NP_001305760.1:p.Val1231=
NM_001318832.1:c.4257A>C	NP_001305761.1:p.Val1419=
NM_001363528.1:c.4227A>C	NP_001350457.1:p.Val1409=
NM_021055.2:c.4296A>C	NP_066399.2:p.Val1432=
XM_005255531.4:c.4227A>C	XP_005255588.2:p.Val1409=
XM_011522636.2:c.4479A>C	XP_011520938.1:p.Val1493=
XM_011522637.2:c.4476A>C	XP_011520939.1:p.Val1492=
XM_011522638.2:c.4641A>C	XP_011520940.2:p.Val1547=
XM_011522639.2:c.4350A>C	XP_011520941.1:p.Val1450=
XM_011522640.2:c.4347A>C	XP_011520942.1:p.Val1449=
XM_017023615.1:c.4422A>C	XP_016879104.1:p.Val1474=
XM_017023616.1:c.4293A>C	XP_016879105.1:p.Val1431=
XM_017023617.1:c.4389A>C	XP_016879106.1:p.Val1463=
XM_017023618.1:c.3135A>C	XP_016879107.1:p.Val1045=
XM_024450413.1:c.4224A>C	XP_024306181.1:p.Val1408=
NM_000548.5:c.4425A>C MANE Select	NP_000539.2:p.Val1475=
NM_001370404.1:c.4293A>C	NP_001357333.1:p.Val1431=
NM_001370405.1:c.4296A>C	NP_001357334.1:p.Val1432=
NM_001077183.3:c.4224A>C	NP_001070651.1:p.Val1408=
NM_001114382.3:c.4356A>C	NP_001107854.1:p.Val1452=
NM_001318827.2:c.4116A>C	NP_001305756.1:p.Val1372=
NM_001318829.2:c.4080A>C	NP_001305758.1:p.Val1360=
NM_001318831.2:c.3693A>C	NP_001305760.1:p.Val1231=
NM_001318832.2:c.4257A>C	NP_001305761.1:p.Val1419=
NM_001363528.2:c.4227A>C	NP_001350457.1:p.Val1409=
NM_021055.3:c.4296A>C	NP_066399.2:p.Val1432=