Canonical Allele Identifier: CA489235040
Gene: HERC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.28386933C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141787C>T , CM000677.2:g.28141787C>T GRCh38
NC_000015.9:g.28386933C>T , CM000677.1:g.28386933C>T GRCh37
NC_000015.8:g.26060528C>T NCBI36
NG_016355.1:g.185363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11760G>A MANE Select ENSP00000261609.8:p.Glu3920=
ENST00000650509.1:c.3471G>A ENSP00000496936.1:p.Glu1157=
ENST00000261609.11:c.11760G>A ENSP00000261609.7:p.Glu3920=
ENST00000564519.1:n.275G>A
NM_004667.5:c.11760G>A NP_004658.3:p.Glu3920=
XM_005268276.3:c.11646G>A XP_005268333.1:p.Glu3882=
XM_005268277.3:c.11646G>A XP_005268334.1:p.Glu3882=
XM_006720726.2:c.11745G>A XP_006720789.1:p.Glu3915=
XM_006720727.2:c.11502G>A XP_006720790.1:p.Glu3834=
XM_011522131.1:c.11277G>A XP_011520433.1:p.Glu3759=
XM_011522132.1:c.9276G>A XP_011520434.1:p.Glu3092=
XM_011522133.1:c.8505G>A XP_011520435.1:p.Glu2835=
XM_011522134.1:c.5877G>A XP_011520436.1:p.Glu1959=
XM_005268276.5:c.11646G>A XP_005268333.1:p.Glu3882=
XM_006720726.3:c.11745G>A XP_006720789.1:p.Glu3915=
XM_006720727.3:c.11502G>A XP_006720790.1:p.Glu3834=
XM_017022695.1:c.11646G>A XP_016878184.1:p.Glu3882=
XM_017022696.1:c.11646G>A XP_016878185.1:p.Glu3882=
XM_017022697.1:c.4926G>A XP_016878186.1:p.Glu1642=
XM_017022698.1:c.4926G>A XP_016878187.1:p.Glu1642=
NM_004667.6:c.11760G>A MANE Select NP_004658.3:p.Glu3920=