Canonical Allele Identifier: CA394308151

Gene: TSC2

Linked Data

• ClinVar Variation Id: 838362
• ClinVar RCV Id: RCV001039897 ; RCV003393797
• dbSNP Id: rs2090790157
• MyVariant Identifiers: chr16:g.2136375T>G (hg19) ; chr16:g.2086374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086374T>G , CM000678.2:g.2086374T>G	GRCh38
NC_000016.9:g.2136375T>G , CM000678.1:g.2136375T>G	GRCh37
NC_000016.8:g.2076376T>G	NCBI36
NG_005895.1:g.42069T>G , LRG_487:g.42069T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3193T>G	ENSP00000455997.2:n.*3193T>G
ENST00000642206.2:c.4691T>G	ENSP00000495146.2:p.Met1564Arg
ENST00000642365.2:c.4841T>G	ENSP00000495459.2:p.Met1614Arg
ENST00000644417.2:c.*5357T>G	ENSP00000493912.2:n.*5357T>G
ENST00000646464.2:c.*7593T>G	ENSP00000496610.2:n.*7593T>G
ENST00000219476.9:c.4844T>G MANE Select	ENSP00000219476.3:p.Met1615Arg
ENST00000350773.9:c.4775T>G	ENSP00000344383.4:p.Met1592Arg
ENST00000401874.7:c.4643T>G	ENSP00000384468.2:p.Met1548Arg
ENST00000568454.6:c.4676T>G	ENSP00000454487.1:p.Met1559Arg
ENST00000569110.2:c.1067T>G
ENST00000569930.2:n.2726T>G
ENST00000642365.1:c.3498T>G
ENST00000642561.1:c.4715T>G	ENSP00000495099.1:p.Met1572Arg
ENST00000642728.1:n.1026T>G
ENST00000642791.1:n.441T>G
ENST00000642797.1:c.4646T>G	ENSP00000493846.1:p.Met1549Arg
ENST00000642936.1:c.4712T>G	ENSP00000494514.1:p.Met1571Arg
ENST00000643088.1:c.4637T>G	ENSP00000494747.1:p.Met1546Arg
ENST00000643177.1:n.858T>G
ENST00000643426.1:n.2492T>G
ENST00000643946.1:c.4769T>G	ENSP00000495927.1:p.Met1590Arg
ENST00000644043.1:c.4715T>G	ENSP00000496262.1:p.Met1572Arg
ENST00000644278.1:n.326T>G
ENST00000644329.1:c.4643T>G	ENSP00000496611.1:p.Met1548Arg
ENST00000644335.1:c.4640T>G	ENSP00000496317.1:p.Met1547Arg
ENST00000644399.1:c.4765T>G
ENST00000645024.1:n.2928T>G
ENST00000646388.1:c.4838T>G	ENSP00000495921.1:p.Met1613Arg
ENST00000646557.1:n.5T>G
ENST00000646634.1:n.3659T>G
ENST00000646674.1:n.2096T>G
ENST00000647042.1:n.2067T>G
ENST00000647180.1:n.1957T>G
ENST00000219476.7:c.4844T>G	ENSP00000219476.3:p.Met1615Arg
ENST00000350773.8:c.4775T>G	ENSP00000344383.4:p.Met1592Arg
ENST00000382538.10:c.4499T>G	ENSP00000371978.6:p.Met1500Arg
ENST00000401874.6:c.4643T>G	ENSP00000384468.2:p.Met1548Arg
ENST00000439117.6:c.*4011T>G	ENSP00000406980.2:n.*4011T>G
ENST00000439673.6:c.4535T>G	ENSP00000399232.2:p.Met1512Arg
ENST00000497886.5:n.2602T>G
ENST00000568454.5:c.4676T>G	ENSP00000454487.1:p.Met1559Arg
ENST00000569110.1:c.1026T>G
ENST00000569930.1:n.1959T>G
NM_000548.3:c.4844T>G , LRG_487t1:c.4844T>G	NP_000539.2:p.Met1615Arg
NM_001077183.1:c.4643T>G	NP_001070651.1:p.Met1548Arg
NM_001114382.1:c.4775T>G	NP_001107854.1:p.Met1592Arg
XM_005255529.3:c.4715T>G	XP_005255586.2:p.Met1572Arg
XM_005255531.3:c.4646T>G	XP_005255588.2:p.Met1549Arg
XM_011522636.1:c.4898T>G	XP_011520938.1:p.Met1633Arg
XM_011522637.1:c.4895T>G	XP_011520939.1:p.Met1632Arg
XM_011522638.1:c.4787T>G	XP_011520940.1:p.Met1596Arg
XM_011522639.1:c.4769T>G	XP_011520941.1:p.Met1590Arg
XM_011522640.1:c.4766T>G	XP_011520942.1:p.Met1589Arg
XM_011522641.1:c.4535T>G	XP_011520943.1:p.Met1512Arg
NM_000548.4:c.4844T>G	NP_000539.2:p.Met1615Arg
NM_001077183.2:c.4643T>G	NP_001070651.1:p.Met1548Arg
NM_001114382.2:c.4775T>G	NP_001107854.1:p.Met1592Arg
NM_001318827.1:c.4535T>G	NP_001305756.1:p.Met1512Arg
NM_001318829.1:c.4499T>G	NP_001305758.1:p.Met1500Arg
NM_001318831.1:c.4112T>G	NP_001305760.1:p.Met1371Arg
NM_001318832.1:c.4676T>G	NP_001305761.1:p.Met1559Arg
NM_001363528.1:c.4646T>G	NP_001350457.1:p.Met1549Arg
NM_021055.2:c.4715T>G	NP_066399.2:p.Met1572Arg
XM_005255531.4:c.4646T>G	XP_005255588.2:p.Met1549Arg
XM_011522636.2:c.4898T>G	XP_011520938.1:p.Met1633Arg
XM_011522637.2:c.4895T>G	XP_011520939.1:p.Met1632Arg
XM_011522638.2:c.5060T>G	XP_011520940.2:p.Met1687Arg
XM_011522639.2:c.4769T>G	XP_011520941.1:p.Met1590Arg
XM_011522640.2:c.4766T>G	XP_011520942.1:p.Met1589Arg
XM_017023615.1:c.4841T>G	XP_016879104.1:p.Met1614Arg
XM_017023616.1:c.4712T>G	XP_016879105.1:p.Met1571Arg
XM_017023617.1:c.4808T>G	XP_016879106.1:p.Met1603Arg
XM_017023618.1:c.3554T>G	XP_016879107.1:p.Met1185Arg
XM_024450413.1:c.4643T>G	XP_024306181.1:p.Met1548Arg
NM_000548.5:c.4844T>G MANE Select	NP_000539.2:p.Met1615Arg
NM_001370404.1:c.4712T>G	NP_001357333.1:p.Met1571Arg
NM_001370405.1:c.4715T>G	NP_001357334.1:p.Met1572Arg
NM_001077183.3:c.4643T>G	NP_001070651.1:p.Met1548Arg
NM_001114382.3:c.4775T>G	NP_001107854.1:p.Met1592Arg
NM_001318827.2:c.4535T>G	NP_001305756.1:p.Met1512Arg
NM_001318829.2:c.4499T>G	NP_001305758.1:p.Met1500Arg
NM_001318831.2:c.4112T>G	NP_001305760.1:p.Met1371Arg
NM_001318832.2:c.4676T>G	NP_001305761.1:p.Met1559Arg
NM_001363528.2:c.4646T>G	NP_001350457.1:p.Met1549Arg
NM_021055.3:c.4715T>G	NP_066399.2:p.Met1572Arg