Canonical Allele Identifier: CA391381821
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141744G>A , CM000677.2:g.28141744G>A GRCh38
NC_000015.9:g.28386890G>A , CM000677.1:g.28386890G>A GRCh37
NC_000015.8:g.26060485G>A NCBI36
NG_016355.1:g.185406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11803C>T MANE Select ENSP00000261609.8:p.Gln3935Ter
ENST00000650509.1:c.3514C>T ENSP00000496936.1:p.Gln1172Ter
ENST00000261609.11:c.11803C>T ENSP00000261609.7:p.Gln3935Ter
ENST00000564519.1:n.318C>T
NM_004667.5:c.11803C>T NP_004658.3:p.Gln3935Ter
XM_005268276.3:c.11689C>T XP_005268333.1:p.Gln3897Ter
XM_005268277.3:c.11689C>T XP_005268334.1:p.Gln3897Ter
XM_006720726.2:c.11788C>T XP_006720789.1:p.Gln3930Ter
XM_006720727.2:c.11545C>T XP_006720790.1:p.Gln3849Ter
XM_011522131.1:c.11320C>T XP_011520433.1:p.Gln3774Ter
XM_011522132.1:c.9319C>T XP_011520434.1:p.Gln3107Ter
XM_011522133.1:c.8548C>T XP_011520435.1:p.Gln2850Ter
XM_011522134.1:c.5920C>T XP_011520436.1:p.Gln1974Ter
XM_005268276.5:c.11689C>T XP_005268333.1:p.Gln3897Ter
XM_006720726.3:c.11788C>T XP_006720789.1:p.Gln3930Ter
XM_006720727.3:c.11545C>T XP_006720790.1:p.Gln3849Ter
XM_017022695.1:c.11689C>T XP_016878184.1:p.Gln3897Ter
XM_017022696.1:c.11689C>T XP_016878185.1:p.Gln3897Ter
XM_017022697.1:c.4969C>T XP_016878186.1:p.Gln1657Ter
XM_017022698.1:c.4969C>T XP_016878187.1:p.Gln1657Ter
NM_004667.6:c.11803C>T MANE Select NP_004658.3:p.Gln3935Ter