Canonical Allele Identifier: CA492958233

Gene: TSC2

Linked Data

• dbSNP Id: rs1382897280
• MyVariant Identifiers: chr16:g.2135275A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085274A>C , CM000678.2:g.2085274A>C	GRCh38
NC_000016.9:g.2135275A>C , CM000678.1:g.2135275A>C	GRCh37
NC_000016.8:g.2075276A>C	NCBI36
NG_005895.1:g.40969A>C , LRG_487:g.40969A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2963A>C	ENSP00000455997.2:n.*2963A>C
ENST00000642206.2:c.4461A>C	ENSP00000495146.2:p.Pro1487=
ENST00000642365.2:c.4611A>C	ENSP00000495459.2:p.Pro1537=
ENST00000644417.2:c.*4994A>C	ENSP00000493912.2:n.*4994A>C
ENST00000646464.2:c.*7363A>C	ENSP00000496610.2:n.*7363A>C
ENST00000219476.9:c.4614A>C MANE Select	ENSP00000219476.3:p.Pro1538=
ENST00000350773.9:c.4545A>C	ENSP00000344383.4:p.Pro1515=
ENST00000401874.7:c.4413A>C	ENSP00000384468.2:p.Pro1471=
ENST00000568454.6:c.4446A>C	ENSP00000454487.1:p.Pro1482=
ENST00000569110.2:c.837A>C
ENST00000569930.2:n.2496A>C
ENST00000642365.1:c.3268A>C
ENST00000642561.1:c.4485A>C	ENSP00000495099.1:p.Pro1495=
ENST00000642728.1:n.796A>C
ENST00000642791.1:n.211A>C
ENST00000642797.1:c.4416A>C	ENSP00000493846.1:p.Pro1472=
ENST00000642936.1:c.4482A>C	ENSP00000494514.1:p.Pro1494=
ENST00000643088.1:c.4407A>C	ENSP00000494747.1:p.Pro1469=
ENST00000643177.1:n.628A>C
ENST00000643426.1:n.2262A>C
ENST00000643946.1:c.4539A>C	ENSP00000495927.1:p.Pro1513=
ENST00000644043.1:c.4485A>C	ENSP00000496262.1:p.Pro1495=
ENST00000644278.1:n.96A>C
ENST00000644329.1:c.4413A>C	ENSP00000496611.1:p.Pro1471=
ENST00000644335.1:c.4410A>C	ENSP00000496317.1:p.Pro1470=
ENST00000644399.1:c.4535A>C
ENST00000645024.1:n.2698A>C
ENST00000646388.1:c.4608A>C	ENSP00000495921.1:p.Pro1536=
ENST00000646634.1:n.3429A>C
ENST00000646674.1:n.1866A>C
ENST00000647042.1:n.1837A>C
ENST00000647180.1:n.1727A>C
ENST00000219476.7:c.4614A>C	ENSP00000219476.3:p.Pro1538=
ENST00000350773.8:c.4545A>C	ENSP00000344383.4:p.Pro1515=
ENST00000382538.10:c.4269A>C	ENSP00000371978.6:p.Pro1423=
ENST00000401874.6:c.4413A>C	ENSP00000384468.2:p.Pro1471=
ENST00000439117.6:c.*3781A>C	ENSP00000406980.2:n.*3781A>C
ENST00000439673.6:c.4305A>C	ENSP00000399232.2:p.Pro1435=
ENST00000497886.5:n.2372A>C
ENST00000568454.5:c.4446A>C	ENSP00000454487.1:p.Pro1482=
ENST00000569110.1:c.796A>C
ENST00000569930.1:n.1729A>C
NM_000548.3:c.4614A>C , LRG_487t1:c.4614A>C	NP_000539.2:p.Pro1538=
NM_001077183.1:c.4413A>C	NP_001070651.1:p.Pro1471=
NM_001114382.1:c.4545A>C	NP_001107854.1:p.Pro1515=
XM_005255529.3:c.4485A>C	XP_005255586.2:p.Pro1495=
XM_005255531.3:c.4416A>C	XP_005255588.2:p.Pro1472=
XM_011522636.1:c.4668A>C	XP_011520938.1:p.Pro1556=
XM_011522637.1:c.4665A>C	XP_011520939.1:p.Pro1555=
XM_011522638.1:c.4557A>C	XP_011520940.1:p.Pro1519=
XM_011522639.1:c.4539A>C	XP_011520941.1:p.Pro1513=
XM_011522640.1:c.4536A>C	XP_011520942.1:p.Pro1512=
XM_011522641.1:c.4305A>C	XP_011520943.1:p.Pro1435=
NM_000548.4:c.4614A>C	NP_000539.2:p.Pro1538=
NM_001077183.2:c.4413A>C	NP_001070651.1:p.Pro1471=
NM_001114382.2:c.4545A>C	NP_001107854.1:p.Pro1515=
NM_001318827.1:c.4305A>C	NP_001305756.1:p.Pro1435=
NM_001318829.1:c.4269A>C	NP_001305758.1:p.Pro1423=
NM_001318831.1:c.3882A>C	NP_001305760.1:p.Pro1294=
NM_001318832.1:c.4446A>C	NP_001305761.1:p.Pro1482=
NM_001363528.1:c.4416A>C	NP_001350457.1:p.Pro1472=
NM_021055.2:c.4485A>C	NP_066399.2:p.Pro1495=
XM_005255531.4:c.4416A>C	XP_005255588.2:p.Pro1472=
XM_011522636.2:c.4668A>C	XP_011520938.1:p.Pro1556=
XM_011522637.2:c.4665A>C	XP_011520939.1:p.Pro1555=
XM_011522638.2:c.4830A>C	XP_011520940.2:p.Pro1610=
XM_011522639.2:c.4539A>C	XP_011520941.1:p.Pro1513=
XM_011522640.2:c.4536A>C	XP_011520942.1:p.Pro1512=
XM_017023615.1:c.4611A>C	XP_016879104.1:p.Pro1537=
XM_017023616.1:c.4482A>C	XP_016879105.1:p.Pro1494=
XM_017023617.1:c.4578A>C	XP_016879106.1:p.Pro1526=
XM_017023618.1:c.3324A>C	XP_016879107.1:p.Pro1108=
XM_024450413.1:c.4413A>C	XP_024306181.1:p.Pro1471=
NM_000548.5:c.4614A>C MANE Select	NP_000539.2:p.Pro1538=
NM_001370404.1:c.4482A>C	NP_001357333.1:p.Pro1494=
NM_001370405.1:c.4485A>C	NP_001357334.1:p.Pro1495=
NM_001077183.3:c.4413A>C	NP_001070651.1:p.Pro1471=
NM_001114382.3:c.4545A>C	NP_001107854.1:p.Pro1515=
NM_001318827.2:c.4305A>C	NP_001305756.1:p.Pro1435=
NM_001318829.2:c.4269A>C	NP_001305758.1:p.Pro1423=
NM_001318831.2:c.3882A>C	NP_001305760.1:p.Pro1294=
NM_001318832.2:c.4446A>C	NP_001305761.1:p.Pro1482=
NM_001363528.2:c.4416A>C	NP_001350457.1:p.Pro1472=
NM_021055.3:c.4485A>C	NP_066399.2:p.Pro1495=