Canonical Allele Identifier: CA2520814052
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28284952_28284953insTT , CM000677.2:g.28284952_28284953insTT GRCh38
NC_000015.9:g.28530098_28530099insTT , CM000677.1:g.28530098_28530099insTT GRCh37
NC_000015.8:g.26203693_26203694insTT NCBI36
NG_016355.1:g.42198_42199insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.323-4665_323-4664insAA MANE Select ENSP00000261609.8:n.323-4665_323-4664insA...
ENST00000261609.11:c.323-4665_323-4664insAA ENSP00000261609.7:n.323-4665_323-4664insA...
ENST00000564383.1:n.218-4665_218-4664insAA
ENST00000564734.5:c.*193-4665_*193-4664insAA ENSP00000456237.1:n.*193-4665_*193-4664in...
NM_004667.5:c.323-4665_323-4664insAA NP_004658.3:n.323-4665_323-4664insAA
XM_005268276.3:c.209-4665_209-4664insAA XP_005268333.1:n.209-4665_209-4664insAA
XM_005268277.3:c.209-4665_209-4664insAA XP_005268334.1:n.209-4665_209-4664insAA
XM_006720726.2:c.323-4665_323-4664insAA XP_006720789.1:n.323-4665_323-4664insAA
XM_006720727.2:c.323-4665_323-4664insAA XP_006720790.1:n.323-4665_323-4664insAA
XM_011522133.1:c.322+7936_322+7937insAA XP_011520435.1:n.322+7936_322+7937insAA
XM_011522135.1:c.323-4665_323-4664insAA XP_011520437.1:n.323-4665_323-4664insAA
XM_011522136.1:c.323-4665_323-4664insAA XP_011520438.1:n.323-4665_323-4664insAA
XM_011522137.1:c.323-4665_323-4664insAA XP_011520439.1:n.323-4665_323-4664insAA
XR_931930.1:n.452-4665_452-4664insAA
XR_931931.1:n.452-4665_452-4664insAA
XM_005268276.5:c.209-4665_209-4664insAA XP_005268333.1:n.209-4665_209-4664insAA
XM_006720726.3:c.323-4665_323-4664insAA XP_006720789.1:n.323-4665_323-4664insAA
XM_006720727.3:c.323-4665_323-4664insAA XP_006720790.1:n.323-4665_323-4664insAA
XM_017022695.1:c.209-4665_209-4664insAA XP_016878184.1:n.209-4665_209-4664insAA
XM_017022696.1:c.209-4665_209-4664insAA XP_016878185.1:n.209-4665_209-4664insAA
XR_001751410.1:n.453-4665_453-4664insAA
XR_931930.2:n.453-4665_453-4664insAA
NM_004667.6:c.323-4665_323-4664insAA MANE Select NP_004658.3:n.323-4665_323-4664insAA