Canonical Allele Identifier: CA391381921
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141784G>T , CM000677.2:g.28141784G>T GRCh38
NC_000015.9:g.28386930G>T , CM000677.1:g.28386930G>T GRCh37
NC_000015.8:g.26060525G>T NCBI36
NG_016355.1:g.185366C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11763C>A MANE Select ENSP00000261609.8:p.Ser3921Arg
ENST00000650509.1:c.3474C>A ENSP00000496936.1:p.Ser1158Arg
ENST00000261609.11:c.11763C>A ENSP00000261609.7:p.Ser3921Arg
ENST00000564519.1:n.278C>A
NM_004667.5:c.11763C>A NP_004658.3:p.Ser3921Arg
XM_005268276.3:c.11649C>A XP_005268333.1:p.Ser3883Arg
XM_005268277.3:c.11649C>A XP_005268334.1:p.Ser3883Arg
XM_006720726.2:c.11748C>A XP_006720789.1:p.Ser3916Arg
XM_006720727.2:c.11505C>A XP_006720790.1:p.Ser3835Arg
XM_011522131.1:c.11280C>A XP_011520433.1:p.Ser3760Arg
XM_011522132.1:c.9279C>A XP_011520434.1:p.Ser3093Arg
XM_011522133.1:c.8508C>A XP_011520435.1:p.Ser2836Arg
XM_011522134.1:c.5880C>A XP_011520436.1:p.Ser1960Arg
XM_005268276.5:c.11649C>A XP_005268333.1:p.Ser3883Arg
XM_006720726.3:c.11748C>A XP_006720789.1:p.Ser3916Arg
XM_006720727.3:c.11505C>A XP_006720790.1:p.Ser3835Arg
XM_017022695.1:c.11649C>A XP_016878184.1:p.Ser3883Arg
XM_017022696.1:c.11649C>A XP_016878185.1:p.Ser3883Arg
XM_017022697.1:c.4929C>A XP_016878186.1:p.Ser1643Arg
XM_017022698.1:c.4929C>A XP_016878187.1:p.Ser1643Arg
NM_004667.6:c.11763C>A MANE Select NP_004658.3:p.Ser3921Arg