Canonical Allele Identifier: CA394293622

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2131791C>T (hg19) ; chr16:g.2081790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081790C>T , CM000678.2:g.2081790C>T	GRCh38
NC_000016.9:g.2131791C>T , CM000678.1:g.2131791C>T	GRCh37
NC_000016.8:g.2071792C>T	NCBI36
NG_005895.1:g.37485C>T , LRG_487:g.37485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2224C>T	ENSP00000455997.2:n.*2224C>T
ENST00000642206.2:c.3722C>T	ENSP00000495146.2:p.Ser1241Phe
ENST00000642365.2:c.3803C>T	ENSP00000495459.2:p.Ser1268Phe
ENST00000644417.2:c.*4255C>T	ENSP00000493912.2:n.*4255C>T
ENST00000646464.2:c.*4728C>T	ENSP00000496610.2:n.*4728C>T
ENST00000219476.9:c.3806C>T MANE Select	ENSP00000219476.3:p.Ser1269Phe
ENST00000350773.9:c.3806C>T	ENSP00000344383.4:p.Ser1269Phe
ENST00000401874.7:c.3674C>T	ENSP00000384468.2:p.Ser1225Phe
ENST00000568454.6:c.3707C>T	ENSP00000454487.1:p.Ser1236Phe
ENST00000642365.1:c.2460C>T
ENST00000642561.1:c.3677C>T	ENSP00000495099.1:p.Ser1226Phe
ENST00000642797.1:c.3677C>T	ENSP00000493846.1:p.Ser1226Phe
ENST00000642936.1:c.3674C>T	ENSP00000494514.1:p.Ser1225Phe
ENST00000643088.1:c.3674C>T	ENSP00000494747.1:p.Ser1225Phe
ENST00000643426.1:n.1454C>T
ENST00000643533.1:n.316C>T
ENST00000643946.1:c.3806C>T	ENSP00000495927.1:p.Ser1269Phe
ENST00000644043.1:c.3677C>T	ENSP00000496262.1:p.Ser1226Phe
ENST00000644329.1:c.3674C>T	ENSP00000496611.1:p.Ser1225Phe
ENST00000644335.1:c.3677C>T	ENSP00000496317.1:p.Ser1226Phe
ENST00000644399.1:c.3796C>T
ENST00000644722.1:n.952C>T
ENST00000645024.1:n.1959C>T
ENST00000646388.1:c.3806C>T	ENSP00000495921.1:p.Ser1269Phe
ENST00000646634.1:n.2690C>T
ENST00000646674.1:n.421C>T
ENST00000647042.1:n.1098C>T
ENST00000647180.1:n.286C>T
ENST00000219476.7:c.3806C>T	ENSP00000219476.3:p.Ser1269Phe
ENST00000350773.8:c.3806C>T	ENSP00000344383.4:p.Ser1269Phe
ENST00000382538.10:c.3530C>T	ENSP00000371978.6:p.Ser1177Phe
ENST00000401874.6:c.3674C>T	ENSP00000384468.2:p.Ser1225Phe
ENST00000439117.6:c.*2973C>T	ENSP00000406980.2:n.*2973C>T
ENST00000439673.6:c.3566C>T	ENSP00000399232.2:p.Ser1189Phe
ENST00000497886.5:n.1633C>T
ENST00000568454.5:c.3707C>T	ENSP00000454487.1:p.Ser1236Phe
NM_000548.3:c.3806C>T , LRG_487t1:c.3806C>T	NP_000539.2:p.Ser1269Phe
NM_001077183.1:c.3674C>T	NP_001070651.1:p.Ser1225Phe
NM_001114382.1:c.3806C>T	NP_001107854.1:p.Ser1269Phe
XM_005255529.3:c.3677C>T	XP_005255586.2:p.Ser1226Phe
XM_005255531.3:c.3677C>T	XP_005255588.2:p.Ser1226Phe
XM_011522636.1:c.3806C>T	XP_011520938.1:p.Ser1269Phe
XM_011522637.1:c.3803C>T	XP_011520939.1:p.Ser1268Phe
XM_011522638.1:c.3695C>T	XP_011520940.1:p.Ser1232Phe
XM_011522639.1:c.3677C>T	XP_011520941.1:p.Ser1226Phe
XM_011522640.1:c.3674C>T	XP_011520942.1:p.Ser1225Phe
XM_011522641.1:c.3566C>T	XP_011520943.1:p.Ser1189Phe
NM_000548.4:c.3806C>T	NP_000539.2:p.Ser1269Phe
NM_001077183.2:c.3674C>T	NP_001070651.1:p.Ser1225Phe
NM_001114382.2:c.3806C>T	NP_001107854.1:p.Ser1269Phe
NM_001318827.1:c.3566C>T	NP_001305756.1:p.Ser1189Phe
NM_001318829.1:c.3530C>T	NP_001305758.1:p.Ser1177Phe
NM_001318831.1:c.3074C>T	NP_001305760.1:p.Ser1025Phe
NM_001318832.1:c.3707C>T	NP_001305761.1:p.Ser1236Phe
NM_001363528.1:c.3677C>T	NP_001350457.1:p.Ser1226Phe
NM_021055.2:c.3677C>T	NP_066399.2:p.Ser1226Phe
XM_005255531.4:c.3677C>T	XP_005255588.2:p.Ser1226Phe
XM_011522636.2:c.3806C>T	XP_011520938.1:p.Ser1269Phe
XM_011522637.2:c.3803C>T	XP_011520939.1:p.Ser1268Phe
XM_011522638.2:c.3968C>T	XP_011520940.2:p.Ser1323Phe
XM_011522639.2:c.3677C>T	XP_011520941.1:p.Ser1226Phe
XM_011522640.2:c.3674C>T	XP_011520942.1:p.Ser1225Phe
XM_017023615.1:c.3803C>T	XP_016879104.1:p.Ser1268Phe
XM_017023616.1:c.3674C>T	XP_016879105.1:p.Ser1225Phe
XM_017023617.1:c.3839C>T	XP_016879106.1:p.Ser1280Phe
XM_017023618.1:c.2462C>T	XP_016879107.1:p.Ser821Phe
XM_024450413.1:c.3674C>T	XP_024306181.1:p.Ser1225Phe
NM_000548.5:c.3806C>T MANE Select	NP_000539.2:p.Ser1269Phe
NM_001370404.1:c.3674C>T	NP_001357333.1:p.Ser1225Phe
NM_001370405.1:c.3677C>T	NP_001357334.1:p.Ser1226Phe
NM_001077183.3:c.3674C>T	NP_001070651.1:p.Ser1225Phe
NM_001114382.3:c.3806C>T	NP_001107854.1:p.Ser1269Phe
NM_001318827.2:c.3566C>T	NP_001305756.1:p.Ser1189Phe
NM_001318829.2:c.3530C>T	NP_001305758.1:p.Ser1177Phe
NM_001318831.2:c.3074C>T	NP_001305760.1:p.Ser1025Phe
NM_001318832.2:c.3707C>T	NP_001305761.1:p.Ser1236Phe
NM_001363528.2:c.3677C>T	NP_001350457.1:p.Ser1226Phe
NM_021055.3:c.3677C>T	NP_066399.2:p.Ser1226Phe