Canonical Allele Identifier: CA391381120
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141487G>A , CM000677.2:g.28141487G>A GRCh38
NC_000015.9:g.28386633G>A , CM000677.1:g.28386633G>A GRCh37
NC_000015.8:g.26060228G>A NCBI36
NG_016355.1:g.185663C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11960C>T MANE Select ENSP00000261609.8:p.Pro3987Leu
ENST00000650509.1:c.3671C>T ENSP00000496936.1:p.Pro1224Leu
ENST00000261609.11:c.11960C>T ENSP00000261609.7:p.Pro3987Leu
NM_004667.5:c.11960C>T NP_004658.3:p.Pro3987Leu
XM_005268276.3:c.11846C>T XP_005268333.1:p.Pro3949Leu
XM_005268277.3:c.11846C>T XP_005268334.1:p.Pro3949Leu
XM_006720726.2:c.11945C>T XP_006720789.1:p.Pro3982Leu
XM_006720727.2:c.11702C>T XP_006720790.1:p.Pro3901Leu
XM_011522131.1:c.11477C>T XP_011520433.1:p.Pro3826Leu
XM_011522132.1:c.9476C>T XP_011520434.1:p.Pro3159Leu
XM_011522133.1:c.8705C>T XP_011520435.1:p.Pro2902Leu
XM_011522134.1:c.6077C>T XP_011520436.1:p.Pro2026Leu
XM_005268276.5:c.11846C>T XP_005268333.1:p.Pro3949Leu
XM_006720726.3:c.11945C>T XP_006720789.1:p.Pro3982Leu
XM_006720727.3:c.11702C>T XP_006720790.1:p.Pro3901Leu
XM_017022695.1:c.11846C>T XP_016878184.1:p.Pro3949Leu
XM_017022696.1:c.11846C>T XP_016878185.1:p.Pro3949Leu
XM_017022697.1:c.5126C>T XP_016878186.1:p.Pro1709Leu
XM_017022698.1:c.5126C>T XP_016878187.1:p.Pro1709Leu
NM_004667.6:c.11960C>T MANE Select NP_004658.3:p.Pro3987Leu