Canonical Allele Identifier: CA391381435
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11890C>T MANE Select ENSP00000261609.8:p.Gln3964Ter
ENST00000650509.1:c.3601C>T ENSP00000496936.1:p.Gln1201Ter
ENST00000261609.11:c.11890C>T ENSP00000261609.7:p.Gln3964Ter
NM_004667.5:c.11890C>T NP_004658.3:p.Gln3964Ter
XM_005268276.3:c.11776C>T XP_005268333.1:p.Gln3926Ter
XM_005268277.3:c.11776C>T XP_005268334.1:p.Gln3926Ter
XM_006720726.2:c.11875C>T XP_006720789.1:p.Gln3959Ter
XM_006720727.2:c.11632C>T XP_006720790.1:p.Gln3878Ter
XM_011522131.1:c.11407C>T XP_011520433.1:p.Gln3803Ter
XM_011522132.1:c.9406C>T XP_011520434.1:p.Gln3136Ter
XM_011522133.1:c.8635C>T XP_011520435.1:p.Gln2879Ter
XM_011522134.1:c.6007C>T XP_011520436.1:p.Gln2003Ter
XM_005268276.5:c.11776C>T XP_005268333.1:p.Gln3926Ter
XM_006720726.3:c.11875C>T XP_006720789.1:p.Gln3959Ter
XM_006720727.3:c.11632C>T XP_006720790.1:p.Gln3878Ter
XM_017022695.1:c.11776C>T XP_016878184.1:p.Gln3926Ter
XM_017022696.1:c.11776C>T XP_016878185.1:p.Gln3926Ter
XM_017022697.1:c.5056C>T XP_016878186.1:p.Gln1686Ter
XM_017022698.1:c.5056C>T XP_016878187.1:p.Gln1686Ter
NM_004667.6:c.11890C>T MANE Select NP_004658.3:p.Gln3964Ter