Canonical Allele Identifier: CA391381842
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11794C>A MANE Select ENSP00000261609.8:p.Gln3932Lys
ENST00000650509.1:c.3505C>A ENSP00000496936.1:p.Gln1169Lys
ENST00000261609.11:c.11794C>A ENSP00000261609.7:p.Gln3932Lys
ENST00000564519.1:n.309C>A
NM_004667.5:c.11794C>A NP_004658.3:p.Gln3932Lys
XM_005268276.3:c.11680C>A XP_005268333.1:p.Gln3894Lys
XM_005268277.3:c.11680C>A XP_005268334.1:p.Gln3894Lys
XM_006720726.2:c.11779C>A XP_006720789.1:p.Gln3927Lys
XM_006720727.2:c.11536C>A XP_006720790.1:p.Gln3846Lys
XM_011522131.1:c.11311C>A XP_011520433.1:p.Gln3771Lys
XM_011522132.1:c.9310C>A XP_011520434.1:p.Gln3104Lys
XM_011522133.1:c.8539C>A XP_011520435.1:p.Gln2847Lys
XM_011522134.1:c.5911C>A XP_011520436.1:p.Gln1971Lys
XM_005268276.5:c.11680C>A XP_005268333.1:p.Gln3894Lys
XM_006720726.3:c.11779C>A XP_006720789.1:p.Gln3927Lys
XM_006720727.3:c.11536C>A XP_006720790.1:p.Gln3846Lys
XM_017022695.1:c.11680C>A XP_016878184.1:p.Gln3894Lys
XM_017022696.1:c.11680C>A XP_016878185.1:p.Gln3894Lys
XM_017022697.1:c.4960C>A XP_016878186.1:p.Gln1654Lys
XM_017022698.1:c.4960C>A XP_016878187.1:p.Gln1654Lys
NM_004667.6:c.11794C>A MANE Select NP_004658.3:p.Gln3932Lys