Canonical Allele Identifier: CA391381841
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141753G>A , CM000677.2:g.28141753G>A GRCh38
NC_000015.9:g.28386899G>A , CM000677.1:g.28386899G>A GRCh37
NC_000015.8:g.26060494G>A NCBI36
NG_016355.1:g.185397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11794C>T MANE Select ENSP00000261609.8:p.Gln3932Ter
ENST00000650509.1:c.3505C>T ENSP00000496936.1:p.Gln1169Ter
ENST00000261609.11:c.11794C>T ENSP00000261609.7:p.Gln3932Ter
ENST00000564519.1:n.309C>T
NM_004667.5:c.11794C>T NP_004658.3:p.Gln3932Ter
XM_005268276.3:c.11680C>T XP_005268333.1:p.Gln3894Ter
XM_005268277.3:c.11680C>T XP_005268334.1:p.Gln3894Ter
XM_006720726.2:c.11779C>T XP_006720789.1:p.Gln3927Ter
XM_006720727.2:c.11536C>T XP_006720790.1:p.Gln3846Ter
XM_011522131.1:c.11311C>T XP_011520433.1:p.Gln3771Ter
XM_011522132.1:c.9310C>T XP_011520434.1:p.Gln3104Ter
XM_011522133.1:c.8539C>T XP_011520435.1:p.Gln2847Ter
XM_011522134.1:c.5911C>T XP_011520436.1:p.Gln1971Ter
XM_005268276.5:c.11680C>T XP_005268333.1:p.Gln3894Ter
XM_006720726.3:c.11779C>T XP_006720789.1:p.Gln3927Ter
XM_006720727.3:c.11536C>T XP_006720790.1:p.Gln3846Ter
XM_017022695.1:c.11680C>T XP_016878184.1:p.Gln3894Ter
XM_017022696.1:c.11680C>T XP_016878185.1:p.Gln3894Ter
XM_017022697.1:c.4960C>T XP_016878186.1:p.Gln1654Ter
XM_017022698.1:c.4960C>T XP_016878187.1:p.Gln1654Ter
NM_004667.6:c.11794C>T MANE Select NP_004658.3:p.Gln3932Ter