Canonical Allele Identifier: CA391381509
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141574C>T , CM000677.2:g.28141574C>T GRCh38
NC_000015.9:g.28386720C>T , CM000677.1:g.28386720C>T GRCh37
NC_000015.8:g.26060315C>T NCBI36
NG_016355.1:g.185576G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11873G>A MANE Select ENSP00000261609.8:p.Gly3958Glu
ENST00000650509.1:c.3584G>A ENSP00000496936.1:p.Gly1195Glu
ENST00000261609.11:c.11873G>A ENSP00000261609.7:p.Gly3958Glu
NM_004667.5:c.11873G>A NP_004658.3:p.Gly3958Glu
XM_005268276.3:c.11759G>A XP_005268333.1:p.Gly3920Glu
XM_005268277.3:c.11759G>A XP_005268334.1:p.Gly3920Glu
XM_006720726.2:c.11858G>A XP_006720789.1:p.Gly3953Glu
XM_006720727.2:c.11615G>A XP_006720790.1:p.Gly3872Glu
XM_011522131.1:c.11390G>A XP_011520433.1:p.Gly3797Glu
XM_011522132.1:c.9389G>A XP_011520434.1:p.Gly3130Glu
XM_011522133.1:c.8618G>A XP_011520435.1:p.Gly2873Glu
XM_011522134.1:c.5990G>A XP_011520436.1:p.Gly1997Glu
XM_005268276.5:c.11759G>A XP_005268333.1:p.Gly3920Glu
XM_006720726.3:c.11858G>A XP_006720789.1:p.Gly3953Glu
XM_006720727.3:c.11615G>A XP_006720790.1:p.Gly3872Glu
XM_017022695.1:c.11759G>A XP_016878184.1:p.Gly3920Glu
XM_017022696.1:c.11759G>A XP_016878185.1:p.Gly3920Glu
XM_017022697.1:c.5039G>A XP_016878186.1:p.Gly1680Glu
XM_017022698.1:c.5039G>A XP_016878187.1:p.Gly1680Glu
NM_004667.6:c.11873G>A MANE Select NP_004658.3:p.Gly3958Glu