Canonical Allele Identifier: CA394316184

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138591G>C (hg19) ; chr16:g.2088590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088590G>C , CM000678.2:g.2088590G>C	GRCh38
NC_000016.9:g.2138591G>C , CM000678.1:g.2138591G>C	GRCh37
NC_000016.8:g.2078592G>C	NCBI36
NG_005895.1:g.44285G>C , LRG_487:g.44285G>C
NG_008617.1:g.54631C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3753G>C	ENSP00000455997.2:n.*3753G>C
ENST00000642206.2:c.5251G>C	ENSP00000495146.2:p.Asp1751His
ENST00000642365.2:c.5401G>C	ENSP00000495459.2:p.Asp1801His
ENST00000644417.2:c.*5917G>C	ENSP00000493912.2:n.*5917G>C
ENST00000646464.2:c.*8153G>C	ENSP00000496610.2:n.*8153G>C
ENST00000219476.9:c.5404G>C MANE Select	ENSP00000219476.3:p.Asp1802His
ENST00000350773.9:c.5335G>C	ENSP00000344383.4:p.Asp1779His
ENST00000401874.7:c.5203G>C	ENSP00000384468.2:p.Asp1735His
ENST00000568454.6:c.5236G>C	ENSP00000454487.1:p.Asp1746His
ENST00000569110.2:c.1627G>C
ENST00000569930.2:n.3286G>C
ENST00000642365.1:c.4058G>C
ENST00000642561.1:c.5263G>C	ENSP00000495099.1:p.Asp1755His
ENST00000642791.1:n.1001G>C
ENST00000642797.1:c.5206G>C	ENSP00000493846.1:p.Asp1736His
ENST00000642936.1:c.5272G>C	ENSP00000494514.1:p.Asp1758His
ENST00000643088.1:c.5197G>C	ENSP00000494747.1:p.Asp1733His
ENST00000643426.1:n.3052G>C
ENST00000643946.1:c.5329G>C	ENSP00000495927.1:p.Asp1777His
ENST00000644043.1:c.5275G>C	ENSP00000496262.1:p.Asp1759His
ENST00000644329.1:c.5290G>C	ENSP00000496611.1:p.Asp1764His
ENST00000644335.1:c.5200G>C	ENSP00000496317.1:p.Asp1734His
ENST00000644399.1:c.5325G>C
ENST00000646388.1:c.5398G>C	ENSP00000495921.1:p.Asp1800His
ENST00000646634.1:n.4219G>C
ENST00000646674.1:n.2656G>C
ENST00000647042.1:n.2627G>C
ENST00000647180.1:n.2517G>C
ENST00000219476.7:c.5404G>C	ENSP00000219476.3:p.Asp1802His
ENST00000350773.8:c.5335G>C	ENSP00000344383.4:p.Asp1779His
ENST00000382538.10:c.5059G>C	ENSP00000371978.6:p.Asp1687His
ENST00000401874.6:c.5203G>C	ENSP00000384468.2:p.Asp1735His
ENST00000439117.6:c.*4571G>C	ENSP00000406980.2:n.*4571G>C
ENST00000439673.6:c.5095G>C	ENSP00000399232.2:p.Asp1699His
ENST00000497886.5:n.3127G>C
ENST00000568454.5:c.5236G>C	ENSP00000454487.1:p.Asp1746His
ENST00000569110.1:c.1586G>C
ENST00000569930.1:n.2519G>C
NM_000548.3:c.5404G>C , LRG_487t1:c.5404G>C	NP_000539.2:p.Asp1802His
NM_001077183.1:c.5203G>C	NP_001070651.1:p.Asp1735His
NM_001114382.1:c.5335G>C	NP_001107854.1:p.Asp1779His
XM_005255529.3:c.5275G>C	XP_005255586.2:p.Asp1759His
XM_005255531.3:c.5206G>C	XP_005255588.2:p.Asp1736His
XM_011522636.1:c.5458G>C	XP_011520938.1:p.Asp1820His
XM_011522637.1:c.5455G>C	XP_011520939.1:p.Asp1819His
XM_011522638.1:c.5347G>C	XP_011520940.1:p.Asp1783His
XM_011522639.1:c.5329G>C	XP_011520941.1:p.Asp1777His
XM_011522640.1:c.5326G>C	XP_011520942.1:p.Asp1776His
XM_011522641.1:c.5095G>C	XP_011520943.1:p.Asp1699His
NM_000548.4:c.5404G>C	NP_000539.2:p.Asp1802His
NM_001077183.2:c.5203G>C	NP_001070651.1:p.Asp1735His
NM_001114382.2:c.5335G>C	NP_001107854.1:p.Asp1779His
NM_001318827.1:c.5095G>C	NP_001305756.1:p.Asp1699His
NM_001318829.1:c.5059G>C	NP_001305758.1:p.Asp1687His
NM_001318831.1:c.4672G>C	NP_001305760.1:p.Asp1558His
NM_001318832.1:c.5236G>C	NP_001305761.1:p.Asp1746His
NM_001363528.1:c.5206G>C	NP_001350457.1:p.Asp1736His
NM_021055.2:c.5275G>C	NP_066399.2:p.Asp1759His
XM_005255531.4:c.5206G>C	XP_005255588.2:p.Asp1736His
XM_011522636.2:c.5458G>C	XP_011520938.1:p.Asp1820His
XM_011522637.2:c.5455G>C	XP_011520939.1:p.Asp1819His
XM_011522638.2:c.5620G>C	XP_011520940.2:p.Asp1874His
XM_011522639.2:c.5329G>C	XP_011520941.1:p.Asp1777His
XM_011522640.2:c.5326G>C	XP_011520942.1:p.Asp1776His
XM_017023615.1:c.5401G>C	XP_016879104.1:p.Asp1801His
XM_017023616.1:c.5272G>C	XP_016879105.1:p.Asp1758His
XM_017023617.1:c.5368G>C	XP_016879106.1:p.Asp1790His
XM_017023618.1:c.4114G>C	XP_016879107.1:p.Asp1372His
XM_024450413.1:c.5290G>C	XP_024306181.1:p.Asp1764His
NM_000548.5:c.5404G>C MANE Select	NP_000539.2:p.Asp1802His
NM_001370404.1:c.5272G>C	NP_001357333.1:p.Asp1758His
NM_001370405.1:c.5263G>C	NP_001357334.1:p.Asp1755His
NM_001077183.3:c.5203G>C	NP_001070651.1:p.Asp1735His
NM_001114382.3:c.5335G>C	NP_001107854.1:p.Asp1779His
NM_001318827.2:c.5095G>C	NP_001305756.1:p.Asp1699His
NM_001318829.2:c.5059G>C	NP_001305758.1:p.Asp1687His
NM_001318831.2:c.4672G>C	NP_001305760.1:p.Asp1558His
NM_001318832.2:c.5236G>C	NP_001305761.1:p.Asp1746His
NM_001363528.2:c.5206G>C	NP_001350457.1:p.Asp1736His
NM_021055.3:c.5275G>C	NP_066399.2:p.Asp1759His