Canonical Allele Identifier: CA2166542425
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28260829A= , CM000677.2:g.28260829A= GRCh38
NC_000015.9:g.28505975A= , CM000677.1:g.28505975A= GRCh37
NC_000015.8:g.26179570A= NCBI36
NG_016355.1:g.66321T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.2264T= MANE Select ENSP00000261609.8:p.Leu755=
ENST00000261609.11:c.2264T= ENSP00000261609.7:p.Leu755=
ENST00000564734.5:c.*2134T= ENSP00000456237.1:n.*2134T=
NM_004667.5:c.2264T= NP_004658.3:p.Leu755=
XM_005268276.3:c.2150T= XP_005268333.1:p.Leu717=
XM_005268277.3:c.2150T= XP_005268334.1:p.Leu717=
XM_006720726.2:c.2264T= XP_006720789.1:p.Leu755=
XM_006720727.2:c.2006T= XP_006720790.1:p.Leu669=
XM_011522131.1:c.1781T= XP_011520433.1:p.Leu594=
XM_011522132.1:c.108-4586T= XP_011520434.1:n.108-4586T=
XM_011522133.1:c.323-22057T= XP_011520435.1:n.323-22057T=
XM_011522135.1:c.2264T= XP_011520437.1:p.Leu755=
XM_011522136.1:c.2264T= XP_011520438.1:p.Leu755=
XM_011522137.1:c.2264T= XP_011520439.1:p.Leu755=
XR_931930.1:n.2393T=
XR_931931.1:n.2393T=
XM_005268276.5:c.2150T= XP_005268333.1:p.Leu717=
XM_006720726.3:c.2264T= XP_006720789.1:p.Leu755=
XM_006720727.3:c.2006T= XP_006720790.1:p.Leu669=
XM_017022695.1:c.2150T= XP_016878184.1:p.Leu717=
XM_017022696.1:c.2150T= XP_016878185.1:p.Leu717=
XR_001751410.1:n.2394T=
XR_931930.2:n.2394T=
NM_004667.6:c.2264T= MANE Select NP_004658.3:p.Leu755=