Canonical Allele Identifier: CA394292234

Gene: TSC2

Linked Data

• gnomAD v4: 16-2081658-A-T
• MyVariant Identifiers: chr16:g.2131659A>T (hg19) ; chr16:g.2081658A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081658A>T , CM000678.2:g.2081658A>T	GRCh38
NC_000016.9:g.2131659A>T , CM000678.1:g.2131659A>T	GRCh37
NC_000016.8:g.2071660A>T	NCBI36
NG_005895.1:g.37353A>T , LRG_487:g.37353A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2092A>T	ENSP00000455997.2:n.*2092A>T
ENST00000642206.2:c.3590A>T	ENSP00000495146.2:p.Asn1197Ile
ENST00000642365.2:c.3671A>T	ENSP00000495459.2:p.Asn1224Ile
ENST00000644417.2:c.*4123A>T	ENSP00000493912.2:n.*4123A>T
ENST00000646464.2:c.*4596A>T	ENSP00000496610.2:n.*4596A>T
ENST00000219476.9:c.3674A>T MANE Select	ENSP00000219476.3:p.Asn1225Ile
ENST00000350773.9:c.3674A>T	ENSP00000344383.4:p.Asn1225Ile
ENST00000401874.7:c.3542A>T	ENSP00000384468.2:p.Asn1181Ile
ENST00000568454.6:c.3575A>T	ENSP00000454487.1:p.Asn1192Ile
ENST00000642365.1:c.2328A>T
ENST00000642561.1:c.3545A>T	ENSP00000495099.1:p.Asn1182Ile
ENST00000642797.1:c.3545A>T	ENSP00000493846.1:p.Asn1182Ile
ENST00000642936.1:c.3542A>T	ENSP00000494514.1:p.Asn1181Ile
ENST00000643088.1:c.3542A>T	ENSP00000494747.1:p.Asn1181Ile
ENST00000643426.1:n.1322A>T
ENST00000643533.1:n.184A>T
ENST00000643946.1:c.3674A>T	ENSP00000495927.1:p.Asn1225Ile
ENST00000644043.1:c.3545A>T	ENSP00000496262.1:p.Asn1182Ile
ENST00000644329.1:c.3542A>T	ENSP00000496611.1:p.Asn1181Ile
ENST00000644335.1:c.3545A>T	ENSP00000496317.1:p.Asn1182Ile
ENST00000644399.1:c.3664A>T
ENST00000644722.1:n.820A>T
ENST00000645024.1:n.1827A>T
ENST00000646388.1:c.3674A>T	ENSP00000495921.1:p.Asn1225Ile
ENST00000646634.1:n.2558A>T
ENST00000646674.1:n.289A>T
ENST00000647042.1:n.966A>T
ENST00000647180.1:n.154A>T
ENST00000219476.7:c.3674A>T	ENSP00000219476.3:p.Asn1225Ile
ENST00000350773.8:c.3674A>T	ENSP00000344383.4:p.Asn1225Ile
ENST00000382538.10:c.3398A>T	ENSP00000371978.6:p.Asn1133Ile
ENST00000401874.6:c.3542A>T	ENSP00000384468.2:p.Asn1181Ile
ENST00000439117.6:c.*2841A>T	ENSP00000406980.2:n.*2841A>T
ENST00000439673.6:c.3434A>T	ENSP00000399232.2:p.Asn1145Ile
ENST00000497886.5:n.1501A>T
ENST00000568454.5:c.3575A>T	ENSP00000454487.1:p.Asn1192Ile
NM_000548.3:c.3674A>T , LRG_487t1:c.3674A>T	NP_000539.2:p.Asn1225Ile
NM_001077183.1:c.3542A>T	NP_001070651.1:p.Asn1181Ile
NM_001114382.1:c.3674A>T	NP_001107854.1:p.Asn1225Ile
XM_005255529.3:c.3545A>T	XP_005255586.2:p.Asn1182Ile
XM_005255531.3:c.3545A>T	XP_005255588.2:p.Asn1182Ile
XM_011522636.1:c.3674A>T	XP_011520938.1:p.Asn1225Ile
XM_011522637.1:c.3671A>T	XP_011520939.1:p.Asn1224Ile
XM_011522638.1:c.3563A>T	XP_011520940.1:p.Asn1188Ile
XM_011522639.1:c.3545A>T	XP_011520941.1:p.Asn1182Ile
XM_011522640.1:c.3542A>T	XP_011520942.1:p.Asn1181Ile
XM_011522641.1:c.3434A>T	XP_011520943.1:p.Asn1145Ile
NM_000548.4:c.3674A>T	NP_000539.2:p.Asn1225Ile
NM_001077183.2:c.3542A>T	NP_001070651.1:p.Asn1181Ile
NM_001114382.2:c.3674A>T	NP_001107854.1:p.Asn1225Ile
NM_001318827.1:c.3434A>T	NP_001305756.1:p.Asn1145Ile
NM_001318829.1:c.3398A>T	NP_001305758.1:p.Asn1133Ile
NM_001318831.1:c.2942A>T	NP_001305760.1:p.Asn981Ile
NM_001318832.1:c.3575A>T	NP_001305761.1:p.Asn1192Ile
NM_001363528.1:c.3545A>T	NP_001350457.1:p.Asn1182Ile
NM_021055.2:c.3545A>T	NP_066399.2:p.Asn1182Ile
XM_005255531.4:c.3545A>T	XP_005255588.2:p.Asn1182Ile
XM_011522636.2:c.3674A>T	XP_011520938.1:p.Asn1225Ile
XM_011522637.2:c.3671A>T	XP_011520939.1:p.Asn1224Ile
XM_011522638.2:c.3836A>T	XP_011520940.2:p.Asn1279Ile
XM_011522639.2:c.3545A>T	XP_011520941.1:p.Asn1182Ile
XM_011522640.2:c.3542A>T	XP_011520942.1:p.Asn1181Ile
XM_017023615.1:c.3671A>T	XP_016879104.1:p.Asn1224Ile
XM_017023616.1:c.3542A>T	XP_016879105.1:p.Asn1181Ile
XM_017023617.1:c.3707A>T	XP_016879106.1:p.Asn1236Ile
XM_017023618.1:c.2330A>T	XP_016879107.1:p.Asn777Ile
XM_024450413.1:c.3542A>T	XP_024306181.1:p.Asn1181Ile
NM_000548.5:c.3674A>T MANE Select	NP_000539.2:p.Asn1225Ile
NM_001370404.1:c.3542A>T	NP_001357333.1:p.Asn1181Ile
NM_001370405.1:c.3545A>T	NP_001357334.1:p.Asn1182Ile
NM_001077183.3:c.3542A>T	NP_001070651.1:p.Asn1181Ile
NM_001114382.3:c.3674A>T	NP_001107854.1:p.Asn1225Ile
NM_001318827.2:c.3434A>T	NP_001305756.1:p.Asn1145Ile
NM_001318829.2:c.3398A>T	NP_001305758.1:p.Asn1133Ile
NM_001318831.2:c.2942A>T	NP_001305760.1:p.Asn981Ile
NM_001318832.2:c.3575A>T	NP_001305761.1:p.Asn1192Ile
NM_001363528.2:c.3545A>T	NP_001350457.1:p.Asn1182Ile
NM_021055.3:c.3545A>T	NP_066399.2:p.Asn1182Ile