Canonical Allele Identifier: CA2202037445

Gene: TSC2 PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089126A= , CM000678.2:g.2089126A=	GRCh38
NC_000016.9:g.2139127A= , CM000678.1:g.2139127A=	GRCh37
NC_000016.8:g.2079128A=	NCBI36
NG_005895.1:g.44821A= , LRG_487:g.44821A=
NG_008617.1:g.54095T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.*516A= (TSC2) MANE Select	NP_000539.2:n.*516A=
NM_001009944.3:c.*601T= (PKD1) MANE Select	NP_001009944.3:n.*601T=
ENST00000219476.9:c.*516A= (TSC2) MANE Select	ENSP00000219476.3:n.*516A=
ENST00000262304.9:c.*601T= (PKD1) MANE Select	ENSP00000262304.4:n.*601T=
NM_000296.3:c.*601T= (PKD1)	NP_000287.3:n.*601T=
NM_000296.4:c.*601T= (PKD1)	NP_000287.4:n.*601T=
NM_001009944.2:c.*601T= (PKD1)	NP_001009944.2:n.*601T=
NM_001077183.3:c.*516A= (TSC2)	NP_001070651.1:n.*516A=
NM_001114382.3:c.*516A= (TSC2)	NP_001107854.1:n.*516A=
NM_001318827.2:c.*516A= (TSC2)	NP_001305756.1:n.*516A=
NM_001318829.2:c.*516A= (TSC2)	NP_001305758.1:n.*516A=
NM_001318831.2:c.*516A= (TSC2)	NP_001305760.1:n.*516A=
NM_001318832.2:c.*516A= (TSC2)	NP_001305761.1:n.*516A=
NM_001363528.2:c.*516A= (TSC2)	NP_001350457.1:n.*516A=
NM_001370404.1:c.*516A= (TSC2)	NP_001357333.1:n.*516A=
NM_001370405.1:c.*516A= (TSC2)	NP_001357334.1:n.*516A=
NM_021055.3:c.*516A= (TSC2)	NP_066399.2:n.*516A=
ENST00000262304.8:c.*601T= (PKD1)	ENSP00000262304.4:n.*601T=
ENST00000423118.5:c.*601T= (PKD1)	ENSP00000399501.1:n.*601T=
ENST00000642791.1:n.1537A= (TSC2)
ENST00000643088.1:c.*516A= (TSC2)	ENSP00000494747.1:n.*516A=
ENST00000643946.1:c.*516A= (TSC2)	ENSP00000495927.1:n.*516A=
XM_005255370.2:c.*601T= (PKD1)	XP_005255427.1:n.*601T=
XM_005255370.3:c.*601T= (PKD1)	XP_005255427.1:n.*601T=
XM_011522525.1:c.*601T= (PKD1)	XP_011520827.1:n.*601T=
XM_011522526.1:c.*601T= (PKD1)	XP_011520828.1:n.*601T=
XM_011522527.1:c.*601T= (PKD1)	XP_011520829.1:n.*601T=
XM_011522528.1:c.*601T= (PKD1)	XP_011520830.1:n.*601T=
XM_011522528.3:c.*601T= (PKD1)	XP_011520830.1:n.*601T=
XM_011522529.1:c.*601T= (PKD1)	XP_011520831.1:n.*601T=
XM_011522529.2:c.*601T= (PKD1)	XP_011520831.1:n.*601T=
XM_011522530.1:c.*601T= (PKD1)	XP_011520832.1:n.*601T=
XM_011522531.1:c.*601T= (PKD1)	XP_011520833.1:n.*601T=
XM_011522532.1:c.*601T= (PKD1)	XP_011520834.1:n.*601T=
XM_011522533.1:c.*601T= (PKD1)	XP_011520835.1:n.*601T=
XM_011522534.1:c.*601T= (PKD1)	XP_011520836.1:n.*601T=
XM_011522535.1:c.*601T= (PKD1)	XP_011520837.1:n.*601T=
XM_011522537.1:c.*601T= (PKD1)	XP_011520839.1:n.*601T=
XM_011522537.2:c.*601T= (PKD1)	XP_011520839.1:n.*601T=
XM_024450298.1:c.*601T= (PKD1)	XP_024306066.1:n.*601T=
XM_024450299.1:c.*601T= (PKD1)	XP_024306067.1:n.*601T=
XM_024450300.1:c.*601T= (PKD1)	XP_024306068.1:n.*601T=
XM_024450301.1:c.*601T= (PKD1)	XP_024306069.1:n.*601T=