Canonical Allele Identifier: CA391381855
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141758T>C , CM000677.2:g.28141758T>C GRCh38
NC_000015.9:g.28386904T>C , CM000677.1:g.28386904T>C GRCh37
NC_000015.8:g.26060499T>C NCBI36
NG_016355.1:g.185392A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11789A>G MANE Select ENSP00000261609.8:p.Asp3930Gly
ENST00000650509.1:c.3500A>G ENSP00000496936.1:p.Asp1167Gly
ENST00000261609.11:c.11789A>G ENSP00000261609.7:p.Asp3930Gly
ENST00000564519.1:n.304A>G
NM_004667.5:c.11789A>G NP_004658.3:p.Asp3930Gly
XM_005268276.3:c.11675A>G XP_005268333.1:p.Asp3892Gly
XM_005268277.3:c.11675A>G XP_005268334.1:p.Asp3892Gly
XM_006720726.2:c.11774A>G XP_006720789.1:p.Asp3925Gly
XM_006720727.2:c.11531A>G XP_006720790.1:p.Asp3844Gly
XM_011522131.1:c.11306A>G XP_011520433.1:p.Asp3769Gly
XM_011522132.1:c.9305A>G XP_011520434.1:p.Asp3102Gly
XM_011522133.1:c.8534A>G XP_011520435.1:p.Asp2845Gly
XM_011522134.1:c.5906A>G XP_011520436.1:p.Asp1969Gly
XM_005268276.5:c.11675A>G XP_005268333.1:p.Asp3892Gly
XM_006720726.3:c.11774A>G XP_006720789.1:p.Asp3925Gly
XM_006720727.3:c.11531A>G XP_006720790.1:p.Asp3844Gly
XM_017022695.1:c.11675A>G XP_016878184.1:p.Asp3892Gly
XM_017022696.1:c.11675A>G XP_016878185.1:p.Asp3892Gly
XM_017022697.1:c.4955A>G XP_016878186.1:p.Asp1652Gly
XM_017022698.1:c.4955A>G XP_016878187.1:p.Asp1652Gly
NM_004667.6:c.11789A>G MANE Select NP_004658.3:p.Asp3930Gly