Canonical Allele Identifier: CA391380802
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141433T>G , CM000677.2:g.28141433T>G GRCh38
NC_000015.9:g.28386579T>G , CM000677.1:g.28386579T>G GRCh37
NC_000015.8:g.26060174T>G NCBI36
NG_016355.1:g.185717A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.12014A>C MANE Select ENSP00000261609.8:p.Lys4005Thr
ENST00000650509.1:c.3725A>C ENSP00000496936.1:p.Lys1242Thr
ENST00000261609.11:c.12014A>C ENSP00000261609.7:p.Lys4005Thr
NM_004667.5:c.12014A>C NP_004658.3:p.Lys4005Thr
XM_005268276.3:c.11900A>C XP_005268333.1:p.Lys3967Thr
XM_005268277.3:c.11900A>C XP_005268334.1:p.Lys3967Thr
XM_006720726.2:c.11999A>C XP_006720789.1:p.Lys4000Thr
XM_006720727.2:c.11756A>C XP_006720790.1:p.Lys3919Thr
XM_011522131.1:c.11531A>C XP_011520433.1:p.Lys3844Thr
XM_011522132.1:c.9530A>C XP_011520434.1:p.Lys3177Thr
XM_011522133.1:c.8759A>C XP_011520435.1:p.Lys2920Thr
XM_011522134.1:c.6131A>C XP_011520436.1:p.Lys2044Thr
XM_005268276.5:c.11900A>C XP_005268333.1:p.Lys3967Thr
XM_006720726.3:c.11999A>C XP_006720789.1:p.Lys4000Thr
XM_006720727.3:c.11756A>C XP_006720790.1:p.Lys3919Thr
XM_017022695.1:c.11900A>C XP_016878184.1:p.Lys3967Thr
XM_017022696.1:c.11900A>C XP_016878185.1:p.Lys3967Thr
XM_017022697.1:c.5180A>C XP_016878186.1:p.Lys1727Thr
XM_017022698.1:c.5180A>C XP_016878187.1:p.Lys1727Thr
NM_004667.6:c.12014A>C MANE Select NP_004658.3:p.Lys4005Thr