Canonical Allele Identifier: CA391381129
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141488G>C , CM000677.2:g.28141488G>C GRCh38
NC_000015.9:g.28386634G>C , CM000677.1:g.28386634G>C GRCh37
NC_000015.8:g.26060229G>C NCBI36
NG_016355.1:g.185662C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11959C>G MANE Select ENSP00000261609.8:p.Pro3987Ala
ENST00000650509.1:c.3670C>G ENSP00000496936.1:p.Pro1224Ala
ENST00000261609.11:c.11959C>G ENSP00000261609.7:p.Pro3987Ala
NM_004667.5:c.11959C>G NP_004658.3:p.Pro3987Ala
XM_005268276.3:c.11845C>G XP_005268333.1:p.Pro3949Ala
XM_005268277.3:c.11845C>G XP_005268334.1:p.Pro3949Ala
XM_006720726.2:c.11944C>G XP_006720789.1:p.Pro3982Ala
XM_006720727.2:c.11701C>G XP_006720790.1:p.Pro3901Ala
XM_011522131.1:c.11476C>G XP_011520433.1:p.Pro3826Ala
XM_011522132.1:c.9475C>G XP_011520434.1:p.Pro3159Ala
XM_011522133.1:c.8704C>G XP_011520435.1:p.Pro2902Ala
XM_011522134.1:c.6076C>G XP_011520436.1:p.Pro2026Ala
XM_005268276.5:c.11845C>G XP_005268333.1:p.Pro3949Ala
XM_006720726.3:c.11944C>G XP_006720789.1:p.Pro3982Ala
XM_006720727.3:c.11701C>G XP_006720790.1:p.Pro3901Ala
XM_017022695.1:c.11845C>G XP_016878184.1:p.Pro3949Ala
XM_017022696.1:c.11845C>G XP_016878185.1:p.Pro3949Ala
XM_017022697.1:c.5125C>G XP_016878186.1:p.Pro1709Ala
XM_017022698.1:c.5125C>G XP_016878187.1:p.Pro1709Ala
NM_004667.6:c.11959C>G MANE Select NP_004658.3:p.Pro3987Ala