Canonical Allele Identifier: CA2730414436
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs2140198515

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28182602_28182605del , CM000677.2:g.28182602_28182605del GRCh38
NC_000015.9:g.28427748_28427751del , CM000677.1:g.28427748_28427751del GRCh37
NC_000015.8:g.26101343_26101346del NCBI36
NG_016355.1:g.144547_144550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.8826-91_8826-88del MANE Select ENSP00000261609.8:n.8826-91_8826-88del
ENST00000650509.1:c.537-91_537-88del ENSP00000496936.1:n.537-91_537-88del
ENST00000261609.11:c.8826-91_8826-88del ENSP00000261609.7:n.8826-91_8826-88del
NM_004667.5:c.8826-91_8826-88del NP_004658.3:n.8826-91_8826-88del
XM_005268276.3:c.8712-91_8712-88del XP_005268333.1:n.8712-91_8712-88del
XM_005268277.3:c.8712-91_8712-88del XP_005268334.1:n.8712-91_8712-88del
XM_006720726.2:c.8811-91_8811-88del XP_006720789.1:n.8811-91_8811-88del
XM_006720727.2:c.8568-91_8568-88del XP_006720790.1:n.8568-91_8568-88del
XM_011522131.1:c.8343-91_8343-88del XP_011520433.1:n.8343-91_8343-88del
XM_011522132.1:c.6342-91_6342-88del XP_011520434.1:n.6342-91_6342-88del
XM_011522133.1:c.5571-91_5571-88del XP_011520435.1:n.5571-91_5571-88del
XM_011522134.1:c.2943-91_2943-88del XP_011520436.1:n.2943-91_2943-88del
XR_931930.1:n.8955-91_8955-88del
XM_005268276.5:c.8712-91_8712-88del XP_005268333.1:n.8712-91_8712-88del
XM_006720726.3:c.8811-91_8811-88del XP_006720789.1:n.8811-91_8811-88del
XM_006720727.3:c.8568-91_8568-88del XP_006720790.1:n.8568-91_8568-88del
XM_017022695.1:c.8712-91_8712-88del XP_016878184.1:n.8712-91_8712-88del
XM_017022696.1:c.8712-91_8712-88del XP_016878185.1:n.8712-91_8712-88del
XM_017022697.1:c.1992-91_1992-88del XP_016878186.1:n.1992-91_1992-88del
XM_017022698.1:c.1992-91_1992-88del XP_016878187.1:n.1992-91_1992-88del
XR_931930.2:n.8956-91_8956-88del
NM_004667.6:c.8826-91_8826-88del MANE Select NP_004658.3:n.8826-91_8826-88del