Canonical Allele Identifier: CA391381602
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141596T>G , CM000677.2:g.28141596T>G GRCh38
NC_000015.9:g.28386742T>G , CM000677.1:g.28386742T>G GRCh37
NC_000015.8:g.26060337T>G NCBI36
NG_016355.1:g.185554A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11851A>C MANE Select ENSP00000261609.8:p.Ser3951Arg
ENST00000650509.1:c.3562A>C ENSP00000496936.1:p.Ser1188Arg
ENST00000261609.11:c.11851A>C ENSP00000261609.7:p.Ser3951Arg
NM_004667.5:c.11851A>C NP_004658.3:p.Ser3951Arg
XM_005268276.3:c.11737A>C XP_005268333.1:p.Ser3913Arg
XM_005268277.3:c.11737A>C XP_005268334.1:p.Ser3913Arg
XM_006720726.2:c.11836A>C XP_006720789.1:p.Ser3946Arg
XM_006720727.2:c.11593A>C XP_006720790.1:p.Ser3865Arg
XM_011522131.1:c.11368A>C XP_011520433.1:p.Ser3790Arg
XM_011522132.1:c.9367A>C XP_011520434.1:p.Ser3123Arg
XM_011522133.1:c.8596A>C XP_011520435.1:p.Ser2866Arg
XM_011522134.1:c.5968A>C XP_011520436.1:p.Ser1990Arg
XM_005268276.5:c.11737A>C XP_005268333.1:p.Ser3913Arg
XM_006720726.3:c.11836A>C XP_006720789.1:p.Ser3946Arg
XM_006720727.3:c.11593A>C XP_006720790.1:p.Ser3865Arg
XM_017022695.1:c.11737A>C XP_016878184.1:p.Ser3913Arg
XM_017022696.1:c.11737A>C XP_016878185.1:p.Ser3913Arg
XM_017022697.1:c.5017A>C XP_016878186.1:p.Ser1673Arg
XM_017022698.1:c.5017A>C XP_016878187.1:p.Ser1673Arg
NM_004667.6:c.11851A>C MANE Select NP_004658.3:p.Ser3951Arg