Canonical Allele Identifier: CA267946052
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs979087824

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141467C>T , CM000677.2:g.28141467C>T GRCh38
NC_000015.9:g.28386613C>T , CM000677.1:g.28386613C>T GRCh37
NC_000015.8:g.26060208C>T NCBI36
NG_016355.1:g.185683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11980G>A MANE Select ENSP00000261609.8:p.Glu3994Lys
ENST00000650509.1:c.3691G>A ENSP00000496936.1:p.Glu1231Lys
ENST00000261609.11:c.11980G>A ENSP00000261609.7:p.Glu3994Lys
NM_004667.5:c.11980G>A NP_004658.3:p.Glu3994Lys
XM_005268276.3:c.11866G>A XP_005268333.1:p.Glu3956Lys
XM_005268277.3:c.11866G>A XP_005268334.1:p.Glu3956Lys
XM_006720726.2:c.11965G>A XP_006720789.1:p.Glu3989Lys
XM_006720727.2:c.11722G>A XP_006720790.1:p.Glu3908Lys
XM_011522131.1:c.11497G>A XP_011520433.1:p.Glu3833Lys
XM_011522132.1:c.9496G>A XP_011520434.1:p.Glu3166Lys
XM_011522133.1:c.8725G>A XP_011520435.1:p.Glu2909Lys
XM_011522134.1:c.6097G>A XP_011520436.1:p.Glu2033Lys
XM_005268276.5:c.11866G>A XP_005268333.1:p.Glu3956Lys
XM_006720726.3:c.11965G>A XP_006720789.1:p.Glu3989Lys
XM_006720727.3:c.11722G>A XP_006720790.1:p.Glu3908Lys
XM_017022695.1:c.11866G>A XP_016878184.1:p.Glu3956Lys
XM_017022696.1:c.11866G>A XP_016878185.1:p.Glu3956Lys
XM_017022697.1:c.5146G>A XP_016878186.1:p.Glu1716Lys
XM_017022698.1:c.5146G>A XP_016878187.1:p.Glu1716Lys
NM_004667.6:c.11980G>A MANE Select NP_004658.3:p.Glu3994Lys