Canonical Allele Identifier: CA391380841
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141440C>A , CM000677.2:g.28141440C>A GRCh38
NC_000015.9:g.28386586C>A , CM000677.1:g.28386586C>A GRCh37
NC_000015.8:g.26060181C>A NCBI36
NG_016355.1:g.185710G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.12007G>T MANE Select ENSP00000261609.8:p.Asp4003Tyr
ENST00000650509.1:c.3718G>T ENSP00000496936.1:p.Asp1240Tyr
ENST00000261609.11:c.12007G>T ENSP00000261609.7:p.Asp4003Tyr
NM_004667.5:c.12007G>T NP_004658.3:p.Asp4003Tyr
XM_005268276.3:c.11893G>T XP_005268333.1:p.Asp3965Tyr
XM_005268277.3:c.11893G>T XP_005268334.1:p.Asp3965Tyr
XM_006720726.2:c.11992G>T XP_006720789.1:p.Asp3998Tyr
XM_006720727.2:c.11749G>T XP_006720790.1:p.Asp3917Tyr
XM_011522131.1:c.11524G>T XP_011520433.1:p.Asp3842Tyr
XM_011522132.1:c.9523G>T XP_011520434.1:p.Asp3175Tyr
XM_011522133.1:c.8752G>T XP_011520435.1:p.Asp2918Tyr
XM_011522134.1:c.6124G>T XP_011520436.1:p.Asp2042Tyr
XM_005268276.5:c.11893G>T XP_005268333.1:p.Asp3965Tyr
XM_006720726.3:c.11992G>T XP_006720789.1:p.Asp3998Tyr
XM_006720727.3:c.11749G>T XP_006720790.1:p.Asp3917Tyr
XM_017022695.1:c.11893G>T XP_016878184.1:p.Asp3965Tyr
XM_017022696.1:c.11893G>T XP_016878185.1:p.Asp3965Tyr
XM_017022697.1:c.5173G>T XP_016878186.1:p.Asp1725Tyr
XM_017022698.1:c.5173G>T XP_016878187.1:p.Asp1725Tyr
NM_004667.6:c.12007G>T MANE Select NP_004658.3:p.Asp4003Tyr