Canonical Allele Identifier: CA267945870
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1047284306

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141233_28141234insAGA , CM000677.2:g.28141233_28141234insAGA GRCh38
NC_000015.9:g.28386379_28386380insAGA , CM000677.1:g.28386379_28386380insAGA GRCh37
NC_000015.8:g.26059974_26059975insAGA NCBI36
NG_016355.1:g.185916_185917insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.12015+198_12015+199insTCT MANE Select ENSP00000261609.8:n.12015+198_12015+199insTCT
ENST00000650509.1:c.3726+198_3726+199insTCT ENSP00000496936.1:n.3726+198_3726+199insTCT
ENST00000261609.11:c.12015+198_12015+199insTCT ENSP00000261609.7:n.12015+198_12015+199insTCT
NM_004667.5:c.12015+198_12015+199insTCT NP_004658.3:n.12015+198_12015+199insTCT
XM_005268276.3:c.11901+198_11901+199insTCT XP_005268333.1:n.11901+198_11901+199insTCT
XM_005268277.3:c.11901+198_11901+199insTCT XP_005268334.1:n.11901+198_11901+199insTCT
XM_006720726.2:c.12000+198_12000+199insTCT XP_006720789.1:n.12000+198_12000+199insTCT
XM_006720727.2:c.11757+198_11757+199insTCT XP_006720790.1:n.11757+198_11757+199insTCT
XM_011522131.1:c.11532+198_11532+199insTCT XP_011520433.1:n.11532+198_11532+199insTCT
XM_011522132.1:c.9531+198_9531+199insTCT XP_011520434.1:n.9531+198_9531+199insTCT
XM_011522133.1:c.8760+198_8760+199insTCT XP_011520435.1:n.8760+198_8760+199insTCT
XM_011522134.1:c.6132+198_6132+199insTCT XP_011520436.1:n.6132+198_6132+199insTCT
XM_005268276.5:c.11901+198_11901+199insTCT XP_005268333.1:n.11901+198_11901+199insTCT
XM_006720726.3:c.12000+198_12000+199insTCT XP_006720789.1:n.12000+198_12000+199insTCT
XM_006720727.3:c.11757+198_11757+199insTCT XP_006720790.1:n.11757+198_11757+199insTCT
XM_017022695.1:c.11901+198_11901+199insTCT XP_016878184.1:n.11901+198_11901+199insTCT
XM_017022696.1:c.11901+198_11901+199insTCT XP_016878185.1:n.11901+198_11901+199insTCT
XM_017022697.1:c.5181+198_5181+199insTCT XP_016878186.1:n.5181+198_5181+199insTCT
XM_017022698.1:c.5181+198_5181+199insTCT XP_016878187.1:n.5181+198_5181+199insTCT
NM_004667.6:c.12015+198_12015+199insTCT MANE Select NP_004658.3:n.12015+198_12015+199insTCT