Canonical Allele Identifier: CA2627386249
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141596_28141598dup , CM000677.2:g.28141596_28141598dup GRCh38
NC_000015.9:g.28386742_28386744dup , CM000677.1:g.28386742_28386744dup GRCh37
NC_000015.8:g.26060337_26060339dup NCBI36
NG_016355.1:g.185553_185555dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11850_11852dup MANE Select ENSP00000261609.8:p.Ser3951_Gly3952insSer
ENST00000650509.1:c.3561_3563dup ENSP00000496936.1:p.Ser1188_Gly1189insSer
ENST00000261609.11:c.11850_11852dup ENSP00000261609.7:p.Ser3951_Gly3952insSer
NM_004667.5:c.11850_11852dup NP_004658.3:p.Ser3951_Gly3952insSer
XM_005268276.3:c.11736_11738dup XP_005268333.1:p.Ser3913_Gly3914insSer
XM_005268277.3:c.11736_11738dup XP_005268334.1:p.Ser3913_Gly3914insSer
XM_006720726.2:c.11835_11837dup XP_006720789.1:p.Ser3946_Gly3947insSer
XM_006720727.2:c.11592_11594dup XP_006720790.1:p.Ser3865_Gly3866insSer
XM_011522131.1:c.11367_11369dup XP_011520433.1:p.Ser3790_Gly3791insSer
XM_011522132.1:c.9366_9368dup XP_011520434.1:p.Ser3123_Gly3124insSer
XM_011522133.1:c.8595_8597dup XP_011520435.1:p.Ser2866_Gly2867insSer
XM_011522134.1:c.5967_5969dup XP_011520436.1:p.Ser1990_Gly1991insSer
XM_005268276.5:c.11736_11738dup XP_005268333.1:p.Ser3913_Gly3914insSer
XM_006720726.3:c.11835_11837dup XP_006720789.1:p.Ser3946_Gly3947insSer
XM_006720727.3:c.11592_11594dup XP_006720790.1:p.Ser3865_Gly3866insSer
XM_017022695.1:c.11736_11738dup XP_016878184.1:p.Ser3913_Gly3914insSer
XM_017022696.1:c.11736_11738dup XP_016878185.1:p.Ser3913_Gly3914insSer
XM_017022697.1:c.5016_5018dup XP_016878186.1:p.Ser1673_Gly1674insSer
XM_017022698.1:c.5016_5018dup XP_016878187.1:p.Ser1673_Gly1674insSer
NM_004667.6:c.11850_11852dup MANE Select NP_004658.3:p.Ser3951_Gly3952insSer