Canonical Allele Identifier: CA2166482818
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1888772809

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28120576_28120577del , CM000677.2:g.28120576_28120577del GRCh38
NC_000015.9:g.28365722_28365723del , CM000677.1:g.28365722_28365723del GRCh37
NC_000015.8:g.26039317_26039318del NCBI36
NG_016355.1:g.206574_206575del

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.13272+770_13272+771del MANE Select ENSP00000261609.8:n.13272+770_13272+771del
ENST00000650509.1:c.4751+770_4751+771del ENSP00000496936.1:n.4751+770_4751+771del
ENST00000261609.11:c.13272+770_13272+771del ENSP00000261609.7:n.13272+770_13272+771del
NM_004667.5:c.13272+770_13272+771del NP_004658.3:n.13272+770_13272+771del
XM_005268276.3:c.13158+770_13158+771del XP_005268333.1:n.13158+770_13158+771del
XM_005268277.3:c.13158+770_13158+771del XP_005268334.1:n.13158+770_13158+771del
XM_006720726.2:c.13257+770_13257+771del XP_006720789.1:n.13257+770_13257+771del
XM_006720727.2:c.13014+770_13014+771del XP_006720790.1:n.13014+770_13014+771del
XM_011522131.1:c.12789+770_12789+771del XP_011520433.1:n.12789+770_12789+771del
XM_011522132.1:c.10788+770_10788+771del XP_011520434.1:n.10788+770_10788+771del
XM_011522133.1:c.10017+770_10017+771del XP_011520435.1:n.10017+770_10017+771del
XM_011522134.1:c.7389+770_7389+771del XP_011520436.1:n.7389+770_7389+771del
XM_005268276.5:c.13158+770_13158+771del XP_005268333.1:n.13158+770_13158+771del
XM_006720726.3:c.13257+770_13257+771del XP_006720789.1:n.13257+770_13257+771del
XM_006720727.3:c.13014+770_13014+771del XP_006720790.1:n.13014+770_13014+771del
XM_017022695.1:c.13158+770_13158+771del XP_016878184.1:n.13158+770_13158+771del
XM_017022696.1:c.13158+770_13158+771del XP_016878185.1:n.13158+770_13158+771del
XM_017022697.1:c.6438+770_6438+771del XP_016878186.1:n.6438+770_6438+771del
XM_017022698.1:c.6438+770_6438+771del XP_016878187.1:n.6438+770_6438+771del
NM_004667.6:c.13272+770_13272+771del MANE Select NP_004658.3:n.13272+770_13272+771del