Canonical Allele Identifier: CA391381437
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141557G>T , CM000677.2:g.28141557G>T GRCh38
NC_000015.9:g.28386703G>T , CM000677.1:g.28386703G>T GRCh37
NC_000015.8:g.26060298G>T NCBI36
NG_016355.1:g.185593C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11890C>A MANE Select ENSP00000261609.8:p.Gln3964Lys
ENST00000650509.1:c.3601C>A ENSP00000496936.1:p.Gln1201Lys
ENST00000261609.11:c.11890C>A ENSP00000261609.7:p.Gln3964Lys
NM_004667.5:c.11890C>A NP_004658.3:p.Gln3964Lys
XM_005268276.3:c.11776C>A XP_005268333.1:p.Gln3926Lys
XM_005268277.3:c.11776C>A XP_005268334.1:p.Gln3926Lys
XM_006720726.2:c.11875C>A XP_006720789.1:p.Gln3959Lys
XM_006720727.2:c.11632C>A XP_006720790.1:p.Gln3878Lys
XM_011522131.1:c.11407C>A XP_011520433.1:p.Gln3803Lys
XM_011522132.1:c.9406C>A XP_011520434.1:p.Gln3136Lys
XM_011522133.1:c.8635C>A XP_011520435.1:p.Gln2879Lys
XM_011522134.1:c.6007C>A XP_011520436.1:p.Gln2003Lys
XM_005268276.5:c.11776C>A XP_005268333.1:p.Gln3926Lys
XM_006720726.3:c.11875C>A XP_006720789.1:p.Gln3959Lys
XM_006720727.3:c.11632C>A XP_006720790.1:p.Gln3878Lys
XM_017022695.1:c.11776C>A XP_016878184.1:p.Gln3926Lys
XM_017022696.1:c.11776C>A XP_016878185.1:p.Gln3926Lys
XM_017022697.1:c.5056C>A XP_016878186.1:p.Gln1686Lys
XM_017022698.1:c.5056C>A XP_016878187.1:p.Gln1686Lys
NM_004667.6:c.11890C>A MANE Select NP_004658.3:p.Gln3964Lys