Canonical Allele Identifier: CA391382052
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141842G>T , CM000677.2:g.28141842G>T GRCh38
NC_000015.9:g.28386988G>T , CM000677.1:g.28386988G>T GRCh37
NC_000015.8:g.26060583G>T NCBI36
NG_016355.1:g.185308C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11705C>A MANE Select ENSP00000261609.8:p.Ala3902Asp
ENST00000650509.1:c.3416C>A ENSP00000496936.1:p.Ala1139Asp
ENST00000261609.11:c.11705C>A ENSP00000261609.7:p.Ala3902Asp
ENST00000564519.1:n.220C>A
NM_004667.5:c.11705C>A NP_004658.3:p.Ala3902Asp
XM_005268276.3:c.11591C>A XP_005268333.1:p.Ala3864Asp
XM_005268277.3:c.11591C>A XP_005268334.1:p.Ala3864Asp
XM_006720726.2:c.11690C>A XP_006720789.1:p.Ala3897Asp
XM_006720727.2:c.11447C>A XP_006720790.1:p.Ala3816Asp
XM_011522131.1:c.11222C>A XP_011520433.1:p.Ala3741Asp
XM_011522132.1:c.9221C>A XP_011520434.1:p.Ala3074Asp
XM_011522133.1:c.8450C>A XP_011520435.1:p.Ala2817Asp
XM_011522134.1:c.5822C>A XP_011520436.1:p.Ala1941Asp
XM_005268276.5:c.11591C>A XP_005268333.1:p.Ala3864Asp
XM_006720726.3:c.11690C>A XP_006720789.1:p.Ala3897Asp
XM_006720727.3:c.11447C>A XP_006720790.1:p.Ala3816Asp
XM_017022695.1:c.11591C>A XP_016878184.1:p.Ala3864Asp
XM_017022696.1:c.11591C>A XP_016878185.1:p.Ala3864Asp
XM_017022697.1:c.4871C>A XP_016878186.1:p.Ala1624Asp
XM_017022698.1:c.4871C>A XP_016878187.1:p.Ala1624Asp
NM_004667.6:c.11705C>A MANE Select NP_004658.3:p.Ala3902Asp