Canonical Allele Identifier: CA391381294
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141521G>C , CM000677.2:g.28141521G>C GRCh38
NC_000015.9:g.28386667G>C , CM000677.1:g.28386667G>C GRCh37
NC_000015.8:g.26060262G>C NCBI36
NG_016355.1:g.185629C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11926C>G MANE Select ENSP00000261609.8:p.Pro3976Ala
ENST00000650509.1:c.3637C>G ENSP00000496936.1:p.Pro1213Ala
ENST00000261609.11:c.11926C>G ENSP00000261609.7:p.Pro3976Ala
NM_004667.5:c.11926C>G NP_004658.3:p.Pro3976Ala
XM_005268276.3:c.11812C>G XP_005268333.1:p.Pro3938Ala
XM_005268277.3:c.11812C>G XP_005268334.1:p.Pro3938Ala
XM_006720726.2:c.11911C>G XP_006720789.1:p.Pro3971Ala
XM_006720727.2:c.11668C>G XP_006720790.1:p.Pro3890Ala
XM_011522131.1:c.11443C>G XP_011520433.1:p.Pro3815Ala
XM_011522132.1:c.9442C>G XP_011520434.1:p.Pro3148Ala
XM_011522133.1:c.8671C>G XP_011520435.1:p.Pro2891Ala
XM_011522134.1:c.6043C>G XP_011520436.1:p.Pro2015Ala
XM_005268276.5:c.11812C>G XP_005268333.1:p.Pro3938Ala
XM_006720726.3:c.11911C>G XP_006720789.1:p.Pro3971Ala
XM_006720727.3:c.11668C>G XP_006720790.1:p.Pro3890Ala
XM_017022695.1:c.11812C>G XP_016878184.1:p.Pro3938Ala
XM_017022696.1:c.11812C>G XP_016878185.1:p.Pro3938Ala
XM_017022697.1:c.5092C>G XP_016878186.1:p.Pro1698Ala
XM_017022698.1:c.5092C>G XP_016878187.1:p.Pro1698Ala
NM_004667.6:c.11926C>G MANE Select NP_004658.3:p.Pro3976Ala