Canonical Allele Identifier: CA394292540

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2131683A>C (hg19) ; chr16:g.2081682A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081682A>C , CM000678.2:g.2081682A>C	GRCh38
NC_000016.9:g.2131683A>C , CM000678.1:g.2131683A>C	GRCh37
NC_000016.8:g.2071684A>C	NCBI36
NG_005895.1:g.37377A>C , LRG_487:g.37377A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2116A>C	ENSP00000455997.2:n.*2116A>C
ENST00000642206.2:c.3614A>C	ENSP00000495146.2:p.Asn1205Thr
ENST00000642365.2:c.3695A>C	ENSP00000495459.2:p.Asn1232Thr
ENST00000644417.2:c.*4147A>C	ENSP00000493912.2:n.*4147A>C
ENST00000646464.2:c.*4620A>C	ENSP00000496610.2:n.*4620A>C
ENST00000219476.9:c.3698A>C MANE Select	ENSP00000219476.3:p.Asn1233Thr
ENST00000350773.9:c.3698A>C	ENSP00000344383.4:p.Asn1233Thr
ENST00000401874.7:c.3566A>C	ENSP00000384468.2:p.Asn1189Thr
ENST00000568454.6:c.3599A>C	ENSP00000454487.1:p.Asn1200Thr
ENST00000642365.1:c.2352A>C
ENST00000642561.1:c.3569A>C	ENSP00000495099.1:p.Asn1190Thr
ENST00000642797.1:c.3569A>C	ENSP00000493846.1:p.Asn1190Thr
ENST00000642936.1:c.3566A>C	ENSP00000494514.1:p.Asn1189Thr
ENST00000643088.1:c.3566A>C	ENSP00000494747.1:p.Asn1189Thr
ENST00000643426.1:n.1346A>C
ENST00000643533.1:n.208A>C
ENST00000643946.1:c.3698A>C	ENSP00000495927.1:p.Asn1233Thr
ENST00000644043.1:c.3569A>C	ENSP00000496262.1:p.Asn1190Thr
ENST00000644329.1:c.3566A>C	ENSP00000496611.1:p.Asn1189Thr
ENST00000644335.1:c.3569A>C	ENSP00000496317.1:p.Asn1190Thr
ENST00000644399.1:c.3688A>C
ENST00000644722.1:n.844A>C
ENST00000645024.1:n.1851A>C
ENST00000646388.1:c.3698A>C	ENSP00000495921.1:p.Asn1233Thr
ENST00000646634.1:n.2582A>C
ENST00000646674.1:n.313A>C
ENST00000647042.1:n.990A>C
ENST00000647180.1:n.178A>C
ENST00000219476.7:c.3698A>C	ENSP00000219476.3:p.Asn1233Thr
ENST00000350773.8:c.3698A>C	ENSP00000344383.4:p.Asn1233Thr
ENST00000382538.10:c.3422A>C	ENSP00000371978.6:p.Asn1141Thr
ENST00000401874.6:c.3566A>C	ENSP00000384468.2:p.Asn1189Thr
ENST00000439117.6:c.*2865A>C	ENSP00000406980.2:n.*2865A>C
ENST00000439673.6:c.3458A>C	ENSP00000399232.2:p.Asn1153Thr
ENST00000497886.5:n.1525A>C
ENST00000568454.5:c.3599A>C	ENSP00000454487.1:p.Asn1200Thr
NM_000548.3:c.3698A>C , LRG_487t1:c.3698A>C	NP_000539.2:p.Asn1233Thr
NM_001077183.1:c.3566A>C	NP_001070651.1:p.Asn1189Thr
NM_001114382.1:c.3698A>C	NP_001107854.1:p.Asn1233Thr
XM_005255529.3:c.3569A>C	XP_005255586.2:p.Asn1190Thr
XM_005255531.3:c.3569A>C	XP_005255588.2:p.Asn1190Thr
XM_011522636.1:c.3698A>C	XP_011520938.1:p.Asn1233Thr
XM_011522637.1:c.3695A>C	XP_011520939.1:p.Asn1232Thr
XM_011522638.1:c.3587A>C	XP_011520940.1:p.Asn1196Thr
XM_011522639.1:c.3569A>C	XP_011520941.1:p.Asn1190Thr
XM_011522640.1:c.3566A>C	XP_011520942.1:p.Asn1189Thr
XM_011522641.1:c.3458A>C	XP_011520943.1:p.Asn1153Thr
NM_000548.4:c.3698A>C	NP_000539.2:p.Asn1233Thr
NM_001077183.2:c.3566A>C	NP_001070651.1:p.Asn1189Thr
NM_001114382.2:c.3698A>C	NP_001107854.1:p.Asn1233Thr
NM_001318827.1:c.3458A>C	NP_001305756.1:p.Asn1153Thr
NM_001318829.1:c.3422A>C	NP_001305758.1:p.Asn1141Thr
NM_001318831.1:c.2966A>C	NP_001305760.1:p.Asn989Thr
NM_001318832.1:c.3599A>C	NP_001305761.1:p.Asn1200Thr
NM_001363528.1:c.3569A>C	NP_001350457.1:p.Asn1190Thr
NM_021055.2:c.3569A>C	NP_066399.2:p.Asn1190Thr
XM_005255531.4:c.3569A>C	XP_005255588.2:p.Asn1190Thr
XM_011522636.2:c.3698A>C	XP_011520938.1:p.Asn1233Thr
XM_011522637.2:c.3695A>C	XP_011520939.1:p.Asn1232Thr
XM_011522638.2:c.3860A>C	XP_011520940.2:p.Asn1287Thr
XM_011522639.2:c.3569A>C	XP_011520941.1:p.Asn1190Thr
XM_011522640.2:c.3566A>C	XP_011520942.1:p.Asn1189Thr
XM_017023615.1:c.3695A>C	XP_016879104.1:p.Asn1232Thr
XM_017023616.1:c.3566A>C	XP_016879105.1:p.Asn1189Thr
XM_017023617.1:c.3731A>C	XP_016879106.1:p.Asn1244Thr
XM_017023618.1:c.2354A>C	XP_016879107.1:p.Asn785Thr
XM_024450413.1:c.3566A>C	XP_024306181.1:p.Asn1189Thr
NM_000548.5:c.3698A>C MANE Select	NP_000539.2:p.Asn1233Thr
NM_001370404.1:c.3566A>C	NP_001357333.1:p.Asn1189Thr
NM_001370405.1:c.3569A>C	NP_001357334.1:p.Asn1190Thr
NM_001077183.3:c.3566A>C	NP_001070651.1:p.Asn1189Thr
NM_001114382.3:c.3698A>C	NP_001107854.1:p.Asn1233Thr
NM_001318827.2:c.3458A>C	NP_001305756.1:p.Asn1153Thr
NM_001318829.2:c.3422A>C	NP_001305758.1:p.Asn1141Thr
NM_001318831.2:c.2966A>C	NP_001305760.1:p.Asn989Thr
NM_001318832.2:c.3599A>C	NP_001305761.1:p.Asn1200Thr
NM_001363528.2:c.3569A>C	NP_001350457.1:p.Asn1190Thr
NM_021055.3:c.3569A>C	NP_066399.2:p.Asn1190Thr