Canonical Allele Identifier: CA2166491816
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1895973277

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28183055_28183056insCTCTCTCCTCTTTCTCTCTCCCCTCTGTTTC , CM000677.2:g.28183055_28183056insCTCTCTCCTCTTTCTCTCTCCCCTCTGTTTC GRCh38
NC_000015.9:g.28428201_28428202insCTCTCTCCTCTTTCTCTCTCCCCTCTGTTTC , CM000677.1:g.28428201_28428202insCTCTCTCCTCTTTCTCTCTCCCCTCTGTTTC GRCh37
NC_000015.8:g.26101796_26101797insCTCTCTCCTCTTTCTCTCTCCCCTCTGTTTC NCBI36
NG_016355.1:g.144094_144095insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG MANE Select ENSP00000261609.8:n.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAA...
ENST00000650509.1:c.537-544_537-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG ENSP00000496936.1:n.537-544_537-543insGAAACAGAGGGGAGAGAGAAAGA...
ENST00000261609.11:c.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG ENSP00000261609.7:n.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAA...
NM_004667.5:c.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG NP_004658.3:n.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAAGAGGAG...
XM_005268276.3:c.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_005268333.1:n.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_005268277.3:c.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_005268334.1:n.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_006720726.2:c.8811-544_8811-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_006720789.1:n.8811-544_8811-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_006720727.2:c.8568-544_8568-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_006720790.1:n.8568-544_8568-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_011522131.1:c.8343-544_8343-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_011520433.1:n.8343-544_8343-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_011522132.1:c.6342-544_6342-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_011520434.1:n.6342-544_6342-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_011522133.1:c.5571-544_5571-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_011520435.1:n.5571-544_5571-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_011522134.1:c.2943-544_2943-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_011520436.1:n.2943-544_2943-543insGAAACAGAGGGGAGAGAGAAAGAG...
XR_931930.1:n.8955-544_8955-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG
XM_005268276.5:c.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_005268333.1:n.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_006720726.3:c.8811-544_8811-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_006720789.1:n.8811-544_8811-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_006720727.3:c.8568-544_8568-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_006720790.1:n.8568-544_8568-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_017022695.1:c.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_016878184.1:n.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_017022696.1:c.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_016878185.1:n.8712-544_8712-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_017022697.1:c.1992-544_1992-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_016878186.1:n.1992-544_1992-543insGAAACAGAGGGGAGAGAGAAAGAG...
XM_017022698.1:c.1992-544_1992-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG XP_016878187.1:n.1992-544_1992-543insGAAACAGAGGGGAGAGAGAAAGAG...
XR_931930.2:n.8956-544_8956-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG
NM_004667.6:c.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAAGAGGAGAGAG MANE Select NP_004658.3:n.8826-544_8826-543insGAAACAGAGGGGAGAGAGAAAGAGGAG...