Canonical Allele Identifier: CA391381861
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141760T>G , CM000677.2:g.28141760T>G GRCh38
NC_000015.9:g.28386906T>G , CM000677.1:g.28386906T>G GRCh37
NC_000015.8:g.26060501T>G NCBI36
NG_016355.1:g.185390A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11787A>C MANE Select ENSP00000261609.8:p.Gln3929His
ENST00000650509.1:c.3498A>C ENSP00000496936.1:p.Gln1166His
ENST00000261609.11:c.11787A>C ENSP00000261609.7:p.Gln3929His
ENST00000564519.1:n.302A>C
NM_004667.5:c.11787A>C NP_004658.3:p.Gln3929His
XM_005268276.3:c.11673A>C XP_005268333.1:p.Gln3891His
XM_005268277.3:c.11673A>C XP_005268334.1:p.Gln3891His
XM_006720726.2:c.11772A>C XP_006720789.1:p.Gln3924His
XM_006720727.2:c.11529A>C XP_006720790.1:p.Gln3843His
XM_011522131.1:c.11304A>C XP_011520433.1:p.Gln3768His
XM_011522132.1:c.9303A>C XP_011520434.1:p.Gln3101His
XM_011522133.1:c.8532A>C XP_011520435.1:p.Gln2844His
XM_011522134.1:c.5904A>C XP_011520436.1:p.Gln1968His
XM_005268276.5:c.11673A>C XP_005268333.1:p.Gln3891His
XM_006720726.3:c.11772A>C XP_006720789.1:p.Gln3924His
XM_006720727.3:c.11529A>C XP_006720790.1:p.Gln3843His
XM_017022695.1:c.11673A>C XP_016878184.1:p.Gln3891His
XM_017022696.1:c.11673A>C XP_016878185.1:p.Gln3891His
XM_017022697.1:c.4953A>C XP_016878186.1:p.Gln1651His
XM_017022698.1:c.4953A>C XP_016878187.1:p.Gln1651His
NM_004667.6:c.11787A>C MANE Select NP_004658.3:p.Gln3929His