Canonical Allele Identifier: CA2166557368

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28272372G= , CM000677.2:g.28272372G=	GRCh38
NC_000015.8:g.26191113G=	NCBI36
NG_016355.1:g.54778C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.926C= MANE Select	NP_004658.3:p.Ala309=
ENST00000261609.13:c.926C= MANE Select	ENSP00000261609.8:p.Ala309=
NM_004667.5:c.926C=	NP_004658.3:p.Ala309=
ENST00000261609.11:c.926C=	ENSP00000261609.7:p.Ala309=
ENST00000563670.1:n.290C=
ENST00000564734.5:c.*796C=	ENSP00000456237.1:n.*796C=
XM_005268276.3:c.812C=	XP_005268333.1:p.Ala271=
XM_005268276.5:c.812C=	XP_005268333.1:p.Ala271=
XM_005268277.3:c.812C=	XP_005268334.1:p.Ala271=
XM_006720726.2:c.926C=	XP_006720789.1:p.Ala309=
XM_006720726.3:c.926C=	XP_006720789.1:p.Ala309=
XM_006720727.2:c.668C=	XP_006720790.1:p.Ala223=
XM_006720727.3:c.668C=	XP_006720790.1:p.Ala223=
XM_011522131.1:c.443C=	XP_011520433.1:p.Ala148=
XM_011522132.1:c.-51C=	XP_011520434.1:n.-51C=
XM_011522133.1:c.322+20516C=	XP_011520435.1:n.322+20516C=
XM_011522135.1:c.926C=	XP_011520437.1:p.Ala309=
XM_011522136.1:c.926C=	XP_011520438.1:p.Ala309=
XM_011522137.1:c.926C=	XP_011520439.1:p.Ala309=
XM_017022695.1:c.812C=	XP_016878184.1:p.Ala271=
XM_017022696.1:c.812C=	XP_016878185.1:p.Ala271=
XR_001751410.1:n.1056C=
XR_931930.1:n.1055C=
XR_931930.2:n.1056C=
XR_931931.1:n.1055C=