Canonical Allele Identifier: CA391381874
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141765C>T , CM000677.2:g.28141765C>T GRCh38
NC_000015.9:g.28386911C>T , CM000677.1:g.28386911C>T GRCh37
NC_000015.8:g.26060506C>T NCBI36
NG_016355.1:g.185385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11782G>A MANE Select ENSP00000261609.8:p.Glu3928Lys
ENST00000650509.1:c.3493G>A ENSP00000496936.1:p.Glu1165Lys
ENST00000261609.11:c.11782G>A ENSP00000261609.7:p.Glu3928Lys
ENST00000564519.1:n.297G>A
NM_004667.5:c.11782G>A NP_004658.3:p.Glu3928Lys
XM_005268276.3:c.11668G>A XP_005268333.1:p.Glu3890Lys
XM_005268277.3:c.11668G>A XP_005268334.1:p.Glu3890Lys
XM_006720726.2:c.11767G>A XP_006720789.1:p.Glu3923Lys
XM_006720727.2:c.11524G>A XP_006720790.1:p.Glu3842Lys
XM_011522131.1:c.11299G>A XP_011520433.1:p.Glu3767Lys
XM_011522132.1:c.9298G>A XP_011520434.1:p.Glu3100Lys
XM_011522133.1:c.8527G>A XP_011520435.1:p.Glu2843Lys
XM_011522134.1:c.5899G>A XP_011520436.1:p.Glu1967Lys
XM_005268276.5:c.11668G>A XP_005268333.1:p.Glu3890Lys
XM_006720726.3:c.11767G>A XP_006720789.1:p.Glu3923Lys
XM_006720727.3:c.11524G>A XP_006720790.1:p.Glu3842Lys
XM_017022695.1:c.11668G>A XP_016878184.1:p.Glu3890Lys
XM_017022696.1:c.11668G>A XP_016878185.1:p.Glu3890Lys
XM_017022697.1:c.4948G>A XP_016878186.1:p.Glu1650Lys
XM_017022698.1:c.4948G>A XP_016878187.1:p.Glu1650Lys
NM_004667.6:c.11782G>A MANE Select NP_004658.3:p.Glu3928Lys