Canonical Allele Identifier: CA2166552633
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs2075619373

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28268132_28268133del , CM000677.2:g.28268132_28268133del GRCh38
NC_000015.9:g.28513278_28513279del , CM000677.1:g.28513278_28513279del GRCh37
NC_000015.8:g.26186873_26186874del NCBI36
NG_016355.1:g.59021_59022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.1598+336_1598+337del MANE Select ENSP00000261609.8:n.1598+336_1598+337del
ENST00000261609.11:c.1598+336_1598+337del ENSP00000261609.7:n.1598+336_1598+337del
ENST00000564734.5:c.*1468+336_*1468+337del ENSP00000456237.1:n.*1468+336_*1468+337del
NM_004667.5:c.1598+336_1598+337del NP_004658.3:n.1598+336_1598+337del
XM_005268276.3:c.1484+336_1484+337del XP_005268333.1:n.1484+336_1484+337del
XM_005268277.3:c.1484+336_1484+337del XP_005268334.1:n.1484+336_1484+337del
XM_006720726.2:c.1598+336_1598+337del XP_006720789.1:n.1598+336_1598+337del
XM_006720727.2:c.1340+336_1340+337del XP_006720790.1:n.1340+336_1340+337del
XM_011522131.1:c.1115+336_1115+337del XP_011520433.1:n.1115+336_1115+337del
XM_011522132.1:c.107+4086_107+4087del XP_011520434.1:n.107+4086_107+4087del
XM_011522133.1:c.322+24759_322+24760del XP_011520435.1:n.322+24759_322+24760del
XM_011522135.1:c.1598+336_1598+337del XP_011520437.1:n.1598+336_1598+337del
XM_011522136.1:c.1598+336_1598+337del XP_011520438.1:n.1598+336_1598+337del
XM_011522137.1:c.1598+336_1598+337del XP_011520439.1:n.1598+336_1598+337del
XR_931930.1:n.1727+336_1727+337del
XR_931931.1:n.1727+336_1727+337del
XM_005268276.5:c.1484+336_1484+337del XP_005268333.1:n.1484+336_1484+337del
XM_006720726.3:c.1598+336_1598+337del XP_006720789.1:n.1598+336_1598+337del
XM_006720727.3:c.1340+336_1340+337del XP_006720790.1:n.1340+336_1340+337del
XM_017022695.1:c.1484+336_1484+337del XP_016878184.1:n.1484+336_1484+337del
XM_017022696.1:c.1484+336_1484+337del XP_016878185.1:n.1484+336_1484+337del
XR_001751410.1:n.1728+336_1728+337del
XR_931930.2:n.1728+336_1728+337del
NM_004667.6:c.1598+336_1598+337del MANE Select NP_004658.3:n.1598+336_1598+337del