Canonical Allele Identifier: CA391381581
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141592C>A , CM000677.2:g.28141592C>A GRCh38
NC_000015.9:g.28386738C>A , CM000677.1:g.28386738C>A GRCh37
NC_000015.8:g.26060333C>A NCBI36
NG_016355.1:g.185558G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11855G>T MANE Select ENSP00000261609.8:p.Gly3952Val
ENST00000650509.1:c.3566G>T ENSP00000496936.1:p.Gly1189Val
ENST00000261609.11:c.11855G>T ENSP00000261609.7:p.Gly3952Val
NM_004667.5:c.11855G>T NP_004658.3:p.Gly3952Val
XM_005268276.3:c.11741G>T XP_005268333.1:p.Gly3914Val
XM_005268277.3:c.11741G>T XP_005268334.1:p.Gly3914Val
XM_006720726.2:c.11840G>T XP_006720789.1:p.Gly3947Val
XM_006720727.2:c.11597G>T XP_006720790.1:p.Gly3866Val
XM_011522131.1:c.11372G>T XP_011520433.1:p.Gly3791Val
XM_011522132.1:c.9371G>T XP_011520434.1:p.Gly3124Val
XM_011522133.1:c.8600G>T XP_011520435.1:p.Gly2867Val
XM_011522134.1:c.5972G>T XP_011520436.1:p.Gly1991Val
XM_005268276.5:c.11741G>T XP_005268333.1:p.Gly3914Val
XM_006720726.3:c.11840G>T XP_006720789.1:p.Gly3947Val
XM_006720727.3:c.11597G>T XP_006720790.1:p.Gly3866Val
XM_017022695.1:c.11741G>T XP_016878184.1:p.Gly3914Val
XM_017022696.1:c.11741G>T XP_016878185.1:p.Gly3914Val
XM_017022697.1:c.5021G>T XP_016878186.1:p.Gly1674Val
XM_017022698.1:c.5021G>T XP_016878187.1:p.Gly1674Val
NM_004667.6:c.11855G>T MANE Select NP_004658.3:p.Gly3952Val