Canonical Allele Identifier: CA394308229

Gene: TSC2

Linked Data

• dbSNP Id: rs1596442962
• MyVariant Identifiers: chr16:g.2136736T>C (hg19) ; chr16:g.2086735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086735T>C , CM000678.2:g.2086735T>C	GRCh38
NC_000016.9:g.2136736T>C , CM000678.1:g.2136736T>C	GRCh37
NC_000016.8:g.2076737T>C	NCBI36
NG_005895.1:g.42430T>C , LRG_487:g.42430T>C
NG_008617.1:g.56486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3202T>C	ENSP00000455997.2:n.*3202T>C
ENST00000642206.2:c.4700T>C	ENSP00000495146.2:p.Val1567Ala
ENST00000642365.2:c.4850T>C	ENSP00000495459.2:p.Val1617Ala
ENST00000644417.2:c.*5366T>C	ENSP00000493912.2:n.*5366T>C
ENST00000646464.2:c.*7602T>C	ENSP00000496610.2:n.*7602T>C
ENST00000219476.9:c.4853T>C MANE Select	ENSP00000219476.3:p.Val1618Ala
ENST00000350773.9:c.4784T>C	ENSP00000344383.4:p.Val1595Ala
ENST00000401874.7:c.4652T>C	ENSP00000384468.2:p.Val1551Ala
ENST00000568454.6:c.4685T>C	ENSP00000454487.1:p.Val1562Ala
ENST00000569110.2:c.1076T>C
ENST00000569930.2:n.2735T>C
ENST00000642365.1:c.3507T>C
ENST00000642561.1:c.4724T>C	ENSP00000495099.1:p.Val1575Ala
ENST00000642728.1:n.1035T>C
ENST00000642791.1:n.450T>C
ENST00000642797.1:c.4655T>C	ENSP00000493846.1:p.Val1552Ala
ENST00000642936.1:c.4721T>C	ENSP00000494514.1:p.Val1574Ala
ENST00000643088.1:c.4646T>C	ENSP00000494747.1:p.Val1549Ala
ENST00000643177.1:n.867T>C
ENST00000643426.1:n.2501T>C
ENST00000643946.1:c.4778T>C	ENSP00000495927.1:p.Val1593Ala
ENST00000644043.1:c.4724T>C	ENSP00000496262.1:p.Val1575Ala
ENST00000644278.1:n.335T>C
ENST00000644329.1:c.4652T>C	ENSP00000496611.1:p.Val1551Ala
ENST00000644335.1:c.4649T>C	ENSP00000496317.1:p.Val1550Ala
ENST00000644399.1:c.4774T>C
ENST00000645024.1:n.2937T>C
ENST00000646388.1:c.4847T>C	ENSP00000495921.1:p.Val1616Ala
ENST00000646557.1:n.14T>C
ENST00000646634.1:n.3668T>C
ENST00000646674.1:n.2105T>C
ENST00000647042.1:n.2076T>C
ENST00000647180.1:n.1966T>C
ENST00000219476.7:c.4853T>C	ENSP00000219476.3:p.Val1618Ala
ENST00000350773.8:c.4784T>C	ENSP00000344383.4:p.Val1595Ala
ENST00000382538.10:c.4508T>C	ENSP00000371978.6:p.Val1503Ala
ENST00000401874.6:c.4652T>C	ENSP00000384468.2:p.Val1551Ala
ENST00000439117.6:c.*4020T>C	ENSP00000406980.2:n.*4020T>C
ENST00000439673.6:c.4544T>C	ENSP00000399232.2:p.Val1515Ala
ENST00000497886.5:n.2608-32T>C
ENST00000568454.5:c.4685T>C	ENSP00000454487.1:p.Val1562Ala
ENST00000569110.1:c.1035T>C
ENST00000569930.1:n.1968T>C
NM_000548.3:c.4853T>C , LRG_487t1:c.4853T>C	NP_000539.2:p.Val1618Ala
NM_001077183.1:c.4652T>C	NP_001070651.1:p.Val1551Ala
NM_001114382.1:c.4784T>C	NP_001107854.1:p.Val1595Ala
XM_005255529.3:c.4724T>C	XP_005255586.2:p.Val1575Ala
XM_005255531.3:c.4655T>C	XP_005255588.2:p.Val1552Ala
XM_011522636.1:c.4907T>C	XP_011520938.1:p.Val1636Ala
XM_011522637.1:c.4904T>C	XP_011520939.1:p.Val1635Ala
XM_011522638.1:c.4796T>C	XP_011520940.1:p.Val1599Ala
XM_011522639.1:c.4778T>C	XP_011520941.1:p.Val1593Ala
XM_011522640.1:c.4775T>C	XP_011520942.1:p.Val1592Ala
XM_011522641.1:c.4544T>C	XP_011520943.1:p.Val1515Ala
NM_000548.4:c.4853T>C	NP_000539.2:p.Val1618Ala
NM_001077183.2:c.4652T>C	NP_001070651.1:p.Val1551Ala
NM_001114382.2:c.4784T>C	NP_001107854.1:p.Val1595Ala
NM_001318827.1:c.4544T>C	NP_001305756.1:p.Val1515Ala
NM_001318829.1:c.4508T>C	NP_001305758.1:p.Val1503Ala
NM_001318831.1:c.4121T>C	NP_001305760.1:p.Val1374Ala
NM_001318832.1:c.4685T>C	NP_001305761.1:p.Val1562Ala
NM_001363528.1:c.4655T>C	NP_001350457.1:p.Val1552Ala
NM_021055.2:c.4724T>C	NP_066399.2:p.Val1575Ala
XM_005255531.4:c.4655T>C	XP_005255588.2:p.Val1552Ala
XM_011522636.2:c.4907T>C	XP_011520938.1:p.Val1636Ala
XM_011522637.2:c.4904T>C	XP_011520939.1:p.Val1635Ala
XM_011522638.2:c.5069T>C	XP_011520940.2:p.Val1690Ala
XM_011522639.2:c.4778T>C	XP_011520941.1:p.Val1593Ala
XM_011522640.2:c.4775T>C	XP_011520942.1:p.Val1592Ala
XM_017023615.1:c.4850T>C	XP_016879104.1:p.Val1617Ala
XM_017023616.1:c.4721T>C	XP_016879105.1:p.Val1574Ala
XM_017023617.1:c.4817T>C	XP_016879106.1:p.Val1606Ala
XM_017023618.1:c.3563T>C	XP_016879107.1:p.Val1188Ala
XM_024450413.1:c.4652T>C	XP_024306181.1:p.Val1551Ala
NM_000548.5:c.4853T>C MANE Select	NP_000539.2:p.Val1618Ala
NM_001370404.1:c.4721T>C	NP_001357333.1:p.Val1574Ala
NM_001370405.1:c.4724T>C	NP_001357334.1:p.Val1575Ala
NM_001077183.3:c.4652T>C	NP_001070651.1:p.Val1551Ala
NM_001114382.3:c.4784T>C	NP_001107854.1:p.Val1595Ala
NM_001318827.2:c.4544T>C	NP_001305756.1:p.Val1515Ala
NM_001318829.2:c.4508T>C	NP_001305758.1:p.Val1503Ala
NM_001318831.2:c.4121T>C	NP_001305760.1:p.Val1374Ala
NM_001318832.2:c.4685T>C	NP_001305761.1:p.Val1562Ala
NM_001363528.2:c.4655T>C	NP_001350457.1:p.Val1552Ala
NM_021055.3:c.4724T>C	NP_066399.2:p.Val1575Ala