Canonical Allele Identifier: CA394315130

Gene: TSC2

Linked Data

• ClinVar Variation Id: 486648
• ClinVar RCV Id: RCV000569715 ; RCV001327371 ; RCV002260649
• dbSNP Id: rs1555441169
• gnomAD v4: 16-2088458-G-C
• MyVariant Identifiers: chr16:g.2138459G>C (hg19) ; chr16:g.2088458G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088458G>C , CM000678.2:g.2088458G>C	GRCh38
NC_000016.9:g.2138459G>C , CM000678.1:g.2138459G>C	GRCh37
NC_000016.8:g.2078460G>C	NCBI36
NG_005895.1:g.44153G>C , LRG_487:g.44153G>C
NG_008617.1:g.54763C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3621G>C	ENSP00000455997.2:n.*3621G>C
ENST00000642206.2:c.5119G>C	ENSP00000495146.2:p.Ala1707Pro
ENST00000642365.2:c.5269G>C	ENSP00000495459.2:p.Ala1757Pro
ENST00000644417.2:c.*5785G>C	ENSP00000493912.2:n.*5785G>C
ENST00000646464.2:c.*8021G>C	ENSP00000496610.2:n.*8021G>C
ENST00000219476.9:c.5272G>C MANE Select	ENSP00000219476.3:p.Ala1758Pro
ENST00000350773.9:c.5203G>C	ENSP00000344383.4:p.Ala1735Pro
ENST00000401874.7:c.5071G>C	ENSP00000384468.2:p.Ala1691Pro
ENST00000568454.6:c.5104G>C	ENSP00000454487.1:p.Ala1702Pro
ENST00000569110.2:c.1495G>C
ENST00000569930.2:n.3154G>C
ENST00000642365.1:c.3926G>C
ENST00000642561.1:c.5131G>C	ENSP00000495099.1:p.Ala1711Pro
ENST00000642791.1:n.869G>C
ENST00000642797.1:c.5074G>C	ENSP00000493846.1:p.Ala1692Pro
ENST00000642936.1:c.5140G>C	ENSP00000494514.1:p.Ala1714Pro
ENST00000643088.1:c.5065G>C	ENSP00000494747.1:p.Ala1689Pro
ENST00000643426.1:n.2920G>C
ENST00000643946.1:c.5197G>C	ENSP00000495927.1:p.Ala1733Pro
ENST00000644043.1:c.5143G>C	ENSP00000496262.1:p.Ala1715Pro
ENST00000644329.1:c.5158G>C	ENSP00000496611.1:p.Ala1720Pro
ENST00000644335.1:c.5068G>C	ENSP00000496317.1:p.Ala1690Pro
ENST00000644399.1:c.5193G>C
ENST00000645024.1:n.3356G>C
ENST00000646388.1:c.5266G>C	ENSP00000495921.1:p.Ala1756Pro
ENST00000646634.1:n.4087G>C
ENST00000646674.1:n.2524G>C
ENST00000647042.1:n.2495G>C
ENST00000647180.1:n.2385G>C
ENST00000219476.7:c.5272G>C	ENSP00000219476.3:p.Ala1758Pro
ENST00000350773.8:c.5203G>C	ENSP00000344383.4:p.Ala1735Pro
ENST00000382538.10:c.4927G>C	ENSP00000371978.6:p.Ala1643Pro
ENST00000401874.6:c.5071G>C	ENSP00000384468.2:p.Ala1691Pro
ENST00000439117.6:c.*4439G>C	ENSP00000406980.2:n.*4439G>C
ENST00000439673.6:c.4963G>C	ENSP00000399232.2:p.Ala1655Pro
ENST00000497886.5:n.2995G>C
ENST00000568454.5:c.5104G>C	ENSP00000454487.1:p.Ala1702Pro
ENST00000569110.1:c.1454G>C
ENST00000569930.1:n.2387G>C
NM_000548.3:c.5272G>C , LRG_487t1:c.5272G>C	NP_000539.2:p.Ala1758Pro
NM_001077183.1:c.5071G>C	NP_001070651.1:p.Ala1691Pro
NM_001114382.1:c.5203G>C	NP_001107854.1:p.Ala1735Pro
XM_005255529.3:c.5143G>C	XP_005255586.2:p.Ala1715Pro
XM_005255531.3:c.5074G>C	XP_005255588.2:p.Ala1692Pro
XM_011522636.1:c.5326G>C	XP_011520938.1:p.Ala1776Pro
XM_011522637.1:c.5323G>C	XP_011520939.1:p.Ala1775Pro
XM_011522638.1:c.5215G>C	XP_011520940.1:p.Ala1739Pro
XM_011522639.1:c.5197G>C	XP_011520941.1:p.Ala1733Pro
XM_011522640.1:c.5194G>C	XP_011520942.1:p.Ala1732Pro
XM_011522641.1:c.4963G>C	XP_011520943.1:p.Ala1655Pro
NM_000548.4:c.5272G>C	NP_000539.2:p.Ala1758Pro
NM_001077183.2:c.5071G>C	NP_001070651.1:p.Ala1691Pro
NM_001114382.2:c.5203G>C	NP_001107854.1:p.Ala1735Pro
NM_001318827.1:c.4963G>C	NP_001305756.1:p.Ala1655Pro
NM_001318829.1:c.4927G>C	NP_001305758.1:p.Ala1643Pro
NM_001318831.1:c.4540G>C	NP_001305760.1:p.Ala1514Pro
NM_001318832.1:c.5104G>C	NP_001305761.1:p.Ala1702Pro
NM_001363528.1:c.5074G>C	NP_001350457.1:p.Ala1692Pro
NM_021055.2:c.5143G>C	NP_066399.2:p.Ala1715Pro
XM_005255531.4:c.5074G>C	XP_005255588.2:p.Ala1692Pro
XM_011522636.2:c.5326G>C	XP_011520938.1:p.Ala1776Pro
XM_011522637.2:c.5323G>C	XP_011520939.1:p.Ala1775Pro
XM_011522638.2:c.5488G>C	XP_011520940.2:p.Ala1830Pro
XM_011522639.2:c.5197G>C	XP_011520941.1:p.Ala1733Pro
XM_011522640.2:c.5194G>C	XP_011520942.1:p.Ala1732Pro
XM_017023615.1:c.5269G>C	XP_016879104.1:p.Ala1757Pro
XM_017023616.1:c.5140G>C	XP_016879105.1:p.Ala1714Pro
XM_017023617.1:c.5236G>C	XP_016879106.1:p.Ala1746Pro
XM_017023618.1:c.3982G>C	XP_016879107.1:p.Ala1328Pro
XM_024450413.1:c.5158G>C	XP_024306181.1:p.Ala1720Pro
NM_000548.5:c.5272G>C MANE Select	NP_000539.2:p.Ala1758Pro
NM_001370404.1:c.5140G>C	NP_001357333.1:p.Ala1714Pro
NM_001370405.1:c.5131G>C	NP_001357334.1:p.Ala1711Pro
NM_001077183.3:c.5071G>C	NP_001070651.1:p.Ala1691Pro
NM_001114382.3:c.5203G>C	NP_001107854.1:p.Ala1735Pro
NM_001318827.2:c.4963G>C	NP_001305756.1:p.Ala1655Pro
NM_001318829.2:c.4927G>C	NP_001305758.1:p.Ala1643Pro
NM_001318831.2:c.4540G>C	NP_001305760.1:p.Ala1514Pro
NM_001318832.2:c.5104G>C	NP_001305761.1:p.Ala1702Pro
NM_001363528.2:c.5074G>C	NP_001350457.1:p.Ala1692Pro
NM_021055.3:c.5143G>C	NP_066399.2:p.Ala1715Pro