Canonical Allele Identifier: CA391381816
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141742C>A , CM000677.2:g.28141742C>A GRCh38
NC_000015.9:g.28386888C>A , CM000677.1:g.28386888C>A GRCh37
NC_000015.8:g.26060483C>A NCBI36
NG_016355.1:g.185408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11805G>T MANE Select ENSP00000261609.8:p.Gln3935His
ENST00000650509.1:c.3516G>T ENSP00000496936.1:p.Gln1172His
ENST00000261609.11:c.11805G>T ENSP00000261609.7:p.Gln3935His
ENST00000564519.1:n.320G>T
NM_004667.5:c.11805G>T NP_004658.3:p.Gln3935His
XM_005268276.3:c.11691G>T XP_005268333.1:p.Gln3897His
XM_005268277.3:c.11691G>T XP_005268334.1:p.Gln3897His
XM_006720726.2:c.11790G>T XP_006720789.1:p.Gln3930His
XM_006720727.2:c.11547G>T XP_006720790.1:p.Gln3849His
XM_011522131.1:c.11322G>T XP_011520433.1:p.Gln3774His
XM_011522132.1:c.9321G>T XP_011520434.1:p.Gln3107His
XM_011522133.1:c.8550G>T XP_011520435.1:p.Gln2850His
XM_011522134.1:c.5922G>T XP_011520436.1:p.Gln1974His
XM_005268276.5:c.11691G>T XP_005268333.1:p.Gln3897His
XM_006720726.3:c.11790G>T XP_006720789.1:p.Gln3930His
XM_006720727.3:c.11547G>T XP_006720790.1:p.Gln3849His
XM_017022695.1:c.11691G>T XP_016878184.1:p.Gln3897His
XM_017022696.1:c.11691G>T XP_016878185.1:p.Gln3897His
XM_017022697.1:c.4971G>T XP_016878186.1:p.Gln1657His
XM_017022698.1:c.4971G>T XP_016878187.1:p.Gln1657His
NM_004667.6:c.11805G>T MANE Select NP_004658.3:p.Gln3935His