Canonical Allele Identifier: CA2580603993
Community Standard Title: NM_004667.6(HERC2):c.*50G>T
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28111713C>A , CM000677.2:g.28111713C>A GRCh38
NC_000015.9:g.28356859C>A , CM000677.1:g.28356859C>A GRCh37
NC_000015.8:g.26030454C>A NCBI36
NG_016355.1:g.215437G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004667.6:c.*50G>T MANE Select NP_004658.3:n.*50G>T
ENST00000261609.13:c.*50G>T MANE Select ENSP00000261609.8:n.*50G>T
NM_004667.5:c.*50G>T NP_004658.3:n.*50G>T
ENST00000261609.11:c.*50G>T ENSP00000261609.7:n.*50G>T
ENST00000566635.5:n.1680G>T
ENST00000650509.1:c.6034G>T ENSP00000496936.1:n.6034G>T
XM_005268276.3:c.*50G>T XP_005268333.1:n.*50G>T
XM_005268276.5:c.*50G>T XP_005268333.1:n.*50G>T
XM_005268277.3:c.*50G>T XP_005268334.1:n.*50G>T
XM_006720726.2:c.*50G>T XP_006720789.1:n.*50G>T
XM_006720726.3:c.*50G>T XP_006720789.1:n.*50G>T
XM_006720727.2:c.*50G>T XP_006720790.1:n.*50G>T
XM_006720727.3:c.*50G>T XP_006720790.1:n.*50G>T
XM_011522131.1:c.*50G>T XP_011520433.1:n.*50G>T
XM_011522132.1:c.*50G>T XP_011520434.1:n.*50G>T
XM_011522133.1:c.*50G>T XP_011520435.1:n.*50G>T
XM_011522134.1:c.*50G>T XP_011520436.1:n.*50G>T
XM_017022695.1:c.*50G>T XP_016878184.1:n.*50G>T
XM_017022696.1:c.*50G>T XP_016878185.1:n.*50G>T
XM_017022697.1:c.*50G>T XP_016878186.1:n.*50G>T
XM_017022698.1:c.*50G>T XP_016878187.1:n.*50G>T