Canonical Allele Identifier: CA394314803

Gene: TSC2

Linked Data

• dbSNP Id: rs2151632872
• gnomAD v4: 16-2088322-G-C
• MyVariant Identifiers: chr16:g.2138323G>C (hg19) ; chr16:g.2088322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088322G>C , CM000678.2:g.2088322G>C	GRCh38
NC_000016.9:g.2138323G>C , CM000678.1:g.2138323G>C	GRCh37
NC_000016.8:g.2078324G>C	NCBI36
NG_005895.1:g.44017G>C , LRG_487:g.44017G>C
NG_008617.1:g.54899C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3605G>C	ENSP00000455997.2:n.*3605G>C
ENST00000642206.2:c.5103G>C	ENSP00000495146.2:p.Gln1701His
ENST00000642365.2:c.5253G>C	ENSP00000495459.2:p.Gln1751His
ENST00000644417.2:c.*5769G>C	ENSP00000493912.2:n.*5769G>C
ENST00000646464.2:c.*8005G>C	ENSP00000496610.2:n.*8005G>C
ENST00000219476.9:c.5256G>C MANE Select	ENSP00000219476.3:p.Gln1752His
ENST00000350773.9:c.5187G>C	ENSP00000344383.4:p.Gln1729His
ENST00000401874.7:c.5055G>C	ENSP00000384468.2:p.Gln1685His
ENST00000568454.6:c.5088G>C	ENSP00000454487.1:p.Gln1696His
ENST00000569110.2:c.1479G>C
ENST00000569930.2:n.3138G>C
ENST00000642365.1:c.3910G>C
ENST00000642561.1:c.5115G>C	ENSP00000495099.1:p.Gln1705His
ENST00000642791.1:n.853G>C
ENST00000642797.1:c.5058G>C	ENSP00000493846.1:p.Gln1686His
ENST00000642936.1:c.5124G>C	ENSP00000494514.1:p.Gln1708His
ENST00000643088.1:c.5049G>C	ENSP00000494747.1:p.Gln1683His
ENST00000643426.1:n.2904G>C
ENST00000643946.1:c.5181G>C	ENSP00000495927.1:p.Gln1727His
ENST00000644043.1:c.5127G>C	ENSP00000496262.1:p.Gln1709His
ENST00000644329.1:c.5142G>C	ENSP00000496611.1:p.Gln1714His
ENST00000644335.1:c.5052G>C	ENSP00000496317.1:p.Gln1684His
ENST00000644399.1:c.5177G>C
ENST00000645024.1:n.3340G>C
ENST00000646388.1:c.5250G>C	ENSP00000495921.1:p.Gln1750His
ENST00000646634.1:n.4071G>C
ENST00000646674.1:n.2508G>C
ENST00000647042.1:n.2479G>C
ENST00000647180.1:n.2369G>C
ENST00000219476.7:c.5256G>C	ENSP00000219476.3:p.Gln1752His
ENST00000350773.8:c.5187G>C	ENSP00000344383.4:p.Gln1729His
ENST00000382538.10:c.4911G>C	ENSP00000371978.6:p.Gln1637His
ENST00000401874.6:c.5055G>C	ENSP00000384468.2:p.Gln1685His
ENST00000439117.6:c.*4423G>C	ENSP00000406980.2:n.*4423G>C
ENST00000439673.6:c.4947G>C	ENSP00000399232.2:p.Gln1649His
ENST00000497886.5:n.2979G>C
ENST00000568454.5:c.5088G>C	ENSP00000454487.1:p.Gln1696His
ENST00000569110.1:c.1438G>C
ENST00000569930.1:n.2371G>C
NM_000548.3:c.5256G>C , LRG_487t1:c.5256G>C	NP_000539.2:p.Gln1752His
NM_001077183.1:c.5055G>C	NP_001070651.1:p.Gln1685His
NM_001114382.1:c.5187G>C	NP_001107854.1:p.Gln1729His
XM_005255529.3:c.5127G>C	XP_005255586.2:p.Gln1709His
XM_005255531.3:c.5058G>C	XP_005255588.2:p.Gln1686His
XM_011522636.1:c.5310G>C	XP_011520938.1:p.Gln1770His
XM_011522637.1:c.5307G>C	XP_011520939.1:p.Gln1769His
XM_011522638.1:c.5199G>C	XP_011520940.1:p.Gln1733His
XM_011522639.1:c.5181G>C	XP_011520941.1:p.Gln1727His
XM_011522640.1:c.5178G>C	XP_011520942.1:p.Gln1726His
XM_011522641.1:c.4947G>C	XP_011520943.1:p.Gln1649His
NM_000548.4:c.5256G>C	NP_000539.2:p.Gln1752His
NM_001077183.2:c.5055G>C	NP_001070651.1:p.Gln1685His
NM_001114382.2:c.5187G>C	NP_001107854.1:p.Gln1729His
NM_001318827.1:c.4947G>C	NP_001305756.1:p.Gln1649His
NM_001318829.1:c.4911G>C	NP_001305758.1:p.Gln1637His
NM_001318831.1:c.4524G>C	NP_001305760.1:p.Gln1508His
NM_001318832.1:c.5088G>C	NP_001305761.1:p.Gln1696His
NM_001363528.1:c.5058G>C	NP_001350457.1:p.Gln1686His
NM_021055.2:c.5127G>C	NP_066399.2:p.Gln1709His
XM_005255531.4:c.5058G>C	XP_005255588.2:p.Gln1686His
XM_011522636.2:c.5310G>C	XP_011520938.1:p.Gln1770His
XM_011522637.2:c.5307G>C	XP_011520939.1:p.Gln1769His
XM_011522638.2:c.5472G>C	XP_011520940.2:p.Gln1824His
XM_011522639.2:c.5181G>C	XP_011520941.1:p.Gln1727His
XM_011522640.2:c.5178G>C	XP_011520942.1:p.Gln1726His
XM_017023615.1:c.5253G>C	XP_016879104.1:p.Gln1751His
XM_017023616.1:c.5124G>C	XP_016879105.1:p.Gln1708His
XM_017023617.1:c.5220G>C	XP_016879106.1:p.Gln1740His
XM_017023618.1:c.3966G>C	XP_016879107.1:p.Gln1322His
XM_024450413.1:c.5142G>C	XP_024306181.1:p.Gln1714His
NM_000548.5:c.5256G>C MANE Select	NP_000539.2:p.Gln1752His
NM_001370404.1:c.5124G>C	NP_001357333.1:p.Gln1708His
NM_001370405.1:c.5115G>C	NP_001357334.1:p.Gln1705His
NM_001077183.3:c.5055G>C	NP_001070651.1:p.Gln1685His
NM_001114382.3:c.5187G>C	NP_001107854.1:p.Gln1729His
NM_001318827.2:c.4947G>C	NP_001305756.1:p.Gln1649His
NM_001318829.2:c.4911G>C	NP_001305758.1:p.Gln1637His
NM_001318831.2:c.4524G>C	NP_001305760.1:p.Gln1508His
NM_001318832.2:c.5088G>C	NP_001305761.1:p.Gln1696His
NM_001363528.2:c.5058G>C	NP_001350457.1:p.Gln1686His
NM_021055.3:c.5127G>C	NP_066399.2:p.Gln1709His