Canonical Allele Identifier: CA2166482753
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28120434_28120453delinsTGATCCAAGAGGCGAGGCCA , CM000677.2:g.28120434_28120453delinsTGATCCAAGAGGCGAGGCCA GRCh38
NC_000015.9:g.28365580_28365599delinsTGATCCAAGAGGCGAGGCCA , CM000677.1:g.28365580_28365599delinsTGATCCAAGAGGCGAGGCCA GRCh37
NC_000015.8:g.26039175_26039194delinsTGATCCAAGAGGCGAGGCCA NCBI36
NG_016355.1:g.206697_206716delinsTGGCCTCGCCTCTTGGATCA

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.13272+893_13272+912delinsTGGCCTCGCCTCTTGGATCA MANE Select ENSP00000261609.8:n.13272+893_13272+912de...
ENST00000650509.1:c.4751+893_4751+912delinsTGGCCTCGCCTCTTGGATCA ENSP00000496936.1:n.4751+893_4751+912deli...
ENST00000261609.11:c.13272+893_13272+912delinsTGGCCTCGCCTCTTGGATCA ENSP00000261609.7:n.13272+893_13272+912de...
NM_004667.5:c.13272+893_13272+912delinsTGGCCTCGCCTCTTGGATCA NP_004658.3:n.13272+893_13272+912delinsTG...
XM_005268276.3:c.13158+893_13158+912delinsTGGCCTCGCCTCTTGGATCA XP_005268333.1:n.13158+893_13158+912delin...
XM_005268277.3:c.13158+893_13158+912delinsTGGCCTCGCCTCTTGGATCA XP_005268334.1:n.13158+893_13158+912delin...
XM_006720726.2:c.13257+893_13257+912delinsTGGCCTCGCCTCTTGGATCA XP_006720789.1:n.13257+893_13257+912delin...
XM_006720727.2:c.13014+893_13014+912delinsTGGCCTCGCCTCTTGGATCA XP_006720790.1:n.13014+893_13014+912delin...
XM_011522131.1:c.12789+893_12789+912delinsTGGCCTCGCCTCTTGGATCA XP_011520433.1:n.12789+893_12789+912delin...
XM_011522132.1:c.10788+893_10788+912delinsTGGCCTCGCCTCTTGGATCA XP_011520434.1:n.10788+893_10788+912delin...
XM_011522133.1:c.10017+893_10017+912delinsTGGCCTCGCCTCTTGGATCA XP_011520435.1:n.10017+893_10017+912delin...
XM_011522134.1:c.7389+893_7389+912delinsTGGCCTCGCCTCTTGGATCA XP_011520436.1:n.7389+893_7389+912delinsT...
XM_005268276.5:c.13158+893_13158+912delinsTGGCCTCGCCTCTTGGATCA XP_005268333.1:n.13158+893_13158+912delin...
XM_006720726.3:c.13257+893_13257+912delinsTGGCCTCGCCTCTTGGATCA XP_006720789.1:n.13257+893_13257+912delin...
XM_006720727.3:c.13014+893_13014+912delinsTGGCCTCGCCTCTTGGATCA XP_006720790.1:n.13014+893_13014+912delin...
XM_017022695.1:c.13158+893_13158+912delinsTGGCCTCGCCTCTTGGATCA XP_016878184.1:n.13158+893_13158+912delin...
XM_017022696.1:c.13158+893_13158+912delinsTGGCCTCGCCTCTTGGATCA XP_016878185.1:n.13158+893_13158+912delin...
XM_017022697.1:c.6438+893_6438+912delinsTGGCCTCGCCTCTTGGATCA XP_016878186.1:n.6438+893_6438+912delinsT...
XM_017022698.1:c.6438+893_6438+912delinsTGGCCTCGCCTCTTGGATCA XP_016878187.1:n.6438+893_6438+912delinsT...
NM_004667.6:c.13272+893_13272+912delinsTGGCCTCGCCTCTTGGATCA MANE Select NP_004658.3:n.13272+893_13272+912delinsTG...