Canonical Allele Identifier: CA391381578
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141590T>G , CM000677.2:g.28141590T>G GRCh38
NC_000015.9:g.28386736T>G , CM000677.1:g.28386736T>G GRCh37
NC_000015.8:g.26060331T>G NCBI36
NG_016355.1:g.185560A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11857A>C MANE Select ENSP00000261609.8:p.Thr3953Pro
ENST00000650509.1:c.3568A>C ENSP00000496936.1:p.Thr1190Pro
ENST00000261609.11:c.11857A>C ENSP00000261609.7:p.Thr3953Pro
NM_004667.5:c.11857A>C NP_004658.3:p.Thr3953Pro
XM_005268276.3:c.11743A>C XP_005268333.1:p.Thr3915Pro
XM_005268277.3:c.11743A>C XP_005268334.1:p.Thr3915Pro
XM_006720726.2:c.11842A>C XP_006720789.1:p.Thr3948Pro
XM_006720727.2:c.11599A>C XP_006720790.1:p.Thr3867Pro
XM_011522131.1:c.11374A>C XP_011520433.1:p.Thr3792Pro
XM_011522132.1:c.9373A>C XP_011520434.1:p.Thr3125Pro
XM_011522133.1:c.8602A>C XP_011520435.1:p.Thr2868Pro
XM_011522134.1:c.5974A>C XP_011520436.1:p.Thr1992Pro
XM_005268276.5:c.11743A>C XP_005268333.1:p.Thr3915Pro
XM_006720726.3:c.11842A>C XP_006720789.1:p.Thr3948Pro
XM_006720727.3:c.11599A>C XP_006720790.1:p.Thr3867Pro
XM_017022695.1:c.11743A>C XP_016878184.1:p.Thr3915Pro
XM_017022696.1:c.11743A>C XP_016878185.1:p.Thr3915Pro
XM_017022697.1:c.5023A>C XP_016878186.1:p.Thr1675Pro
XM_017022698.1:c.5023A>C XP_016878187.1:p.Thr1675Pro
NM_004667.6:c.11857A>C MANE Select NP_004658.3:p.Thr3953Pro