Canonical Allele Identifier: CA391380810
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141434T>G , CM000677.2:g.28141434T>G GRCh38
NC_000015.9:g.28386580T>G , CM000677.1:g.28386580T>G GRCh37
NC_000015.8:g.26060175T>G NCBI36
NG_016355.1:g.185716A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.12013A>C MANE Select ENSP00000261609.8:p.Lys4005Gln
ENST00000650509.1:c.3724A>C ENSP00000496936.1:p.Lys1242Gln
ENST00000261609.11:c.12013A>C ENSP00000261609.7:p.Lys4005Gln
NM_004667.5:c.12013A>C NP_004658.3:p.Lys4005Gln
XM_005268276.3:c.11899A>C XP_005268333.1:p.Lys3967Gln
XM_005268277.3:c.11899A>C XP_005268334.1:p.Lys3967Gln
XM_006720726.2:c.11998A>C XP_006720789.1:p.Lys4000Gln
XM_006720727.2:c.11755A>C XP_006720790.1:p.Lys3919Gln
XM_011522131.1:c.11530A>C XP_011520433.1:p.Lys3844Gln
XM_011522132.1:c.9529A>C XP_011520434.1:p.Lys3177Gln
XM_011522133.1:c.8758A>C XP_011520435.1:p.Lys2920Gln
XM_011522134.1:c.6130A>C XP_011520436.1:p.Lys2044Gln
XM_005268276.5:c.11899A>C XP_005268333.1:p.Lys3967Gln
XM_006720726.3:c.11998A>C XP_006720789.1:p.Lys4000Gln
XM_006720727.3:c.11755A>C XP_006720790.1:p.Lys3919Gln
XM_017022695.1:c.11899A>C XP_016878184.1:p.Lys3967Gln
XM_017022696.1:c.11899A>C XP_016878185.1:p.Lys3967Gln
XM_017022697.1:c.5179A>C XP_016878186.1:p.Lys1727Gln
XM_017022698.1:c.5179A>C XP_016878187.1:p.Lys1727Gln
NM_004667.6:c.12013A>C MANE Select NP_004658.3:p.Lys4005Gln