Canonical Allele Identifier: CA2166480067
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1891247569

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141727_28141728del , CM000677.2:g.28141727_28141728del GRCh38
NC_000015.9:g.28386873_28386874del , CM000677.1:g.28386873_28386874del GRCh37
NC_000015.8:g.26060468_26060469del NCBI36
NG_016355.1:g.185423_185424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11816+4_11816+5del MANE Select ENSP00000261609.8:n.11816+4_11816+5del
ENST00000650509.1:c.3527+4_3527+5del ENSP00000496936.1:n.3527+4_3527+5del
ENST00000261609.11:c.11816+4_11816+5del ENSP00000261609.7:n.11816+4_11816+5del
NM_004667.5:c.11816+4_11816+5del NP_004658.3:n.11816+4_11816+5del
XM_005268276.3:c.11702+4_11702+5del XP_005268333.1:n.11702+4_11702+5del
XM_005268277.3:c.11702+4_11702+5del XP_005268334.1:n.11702+4_11702+5del
XM_006720726.2:c.11801+4_11801+5del XP_006720789.1:n.11801+4_11801+5del
XM_006720727.2:c.11558+4_11558+5del XP_006720790.1:n.11558+4_11558+5del
XM_011522131.1:c.11333+4_11333+5del XP_011520433.1:n.11333+4_11333+5del
XM_011522132.1:c.9332+4_9332+5del XP_011520434.1:n.9332+4_9332+5del
XM_011522133.1:c.8561+4_8561+5del XP_011520435.1:n.8561+4_8561+5del
XM_011522134.1:c.5933+4_5933+5del XP_011520436.1:n.5933+4_5933+5del
XM_005268276.5:c.11702+4_11702+5del XP_005268333.1:n.11702+4_11702+5del
XM_006720726.3:c.11801+4_11801+5del XP_006720789.1:n.11801+4_11801+5del
XM_006720727.3:c.11558+4_11558+5del XP_006720790.1:n.11558+4_11558+5del
XM_017022695.1:c.11702+4_11702+5del XP_016878184.1:n.11702+4_11702+5del
XM_017022696.1:c.11702+4_11702+5del XP_016878185.1:n.11702+4_11702+5del
XM_017022697.1:c.4982+4_4982+5del XP_016878186.1:n.4982+4_4982+5del
XM_017022698.1:c.4982+4_4982+5del XP_016878187.1:n.4982+4_4982+5del
NM_004667.6:c.11816+4_11816+5del MANE Select NP_004658.3:n.11816+4_11816+5del