Canonical Allele Identifier: CA2166550658
Community Standard Title: NM_004667.6(HERC2):c.1781C= (p.Pro594=)
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28265707G= , CM000677.2:g.28265707G= GRCh38
NC_000015.9:g.28510853G= , CM000677.1:g.28510853G= GRCh37
NC_000015.8:g.26184448G= NCBI36
NG_016355.1:g.61443C=

Transcript Alleles

HGVS Amino-acid Change
NM_004667.6:c.1781C= MANE Select NP_004658.3:p.Pro594=
ENST00000261609.13:c.1781C= MANE Select ENSP00000261609.8:p.Pro594=
NM_004667.5:c.1781C= NP_004658.3:p.Pro594=
ENST00000261609.11:c.1781C= ENSP00000261609.7:p.Pro594=
ENST00000564734.5:c.*1651C= ENSP00000456237.1:n.*1651C=
XM_005268276.3:c.1667C= XP_005268333.1:p.Pro556=
XM_005268276.5:c.1667C= XP_005268333.1:p.Pro556=
XM_005268277.3:c.1667C= XP_005268334.1:p.Pro556=
XM_006720726.2:c.1781C= XP_006720789.1:p.Pro594=
XM_006720726.3:c.1781C= XP_006720789.1:p.Pro594=
XM_006720727.2:c.1523C= XP_006720790.1:p.Pro508=
XM_006720727.3:c.1523C= XP_006720790.1:p.Pro508=
XM_011522131.1:c.1298C= XP_011520433.1:p.Pro433=
XM_011522132.1:c.107+6508C= XP_011520434.1:n.107+6508C=
XM_011522133.1:c.323-26935C= XP_011520435.1:n.323-26935C=
XM_011522135.1:c.1781C= XP_011520437.1:p.Pro594=
XM_011522136.1:c.1781C= XP_011520438.1:p.Pro594=
XM_011522137.1:c.1781C= XP_011520439.1:p.Pro594=
XM_017022695.1:c.1667C= XP_016878184.1:p.Pro556=
XM_017022696.1:c.1667C= XP_016878185.1:p.Pro556=
XR_001751410.1:n.1911C=
XR_931930.1:n.1910C=
XR_931930.2:n.1911C=
XR_931931.1:n.1910C=