Canonical Allele Identifier: CA391381907
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141779T>C , CM000677.2:g.28141779T>C GRCh38
NC_000015.9:g.28386925T>C , CM000677.1:g.28386925T>C GRCh37
NC_000015.8:g.26060520T>C NCBI36
NG_016355.1:g.185371A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11768A>G MANE Select ENSP00000261609.8:p.Asp3923Gly
ENST00000650509.1:c.3479A>G ENSP00000496936.1:p.Asp1160Gly
ENST00000261609.11:c.11768A>G ENSP00000261609.7:p.Asp3923Gly
ENST00000564519.1:n.283A>G
NM_004667.5:c.11768A>G NP_004658.3:p.Asp3923Gly
XM_005268276.3:c.11654A>G XP_005268333.1:p.Asp3885Gly
XM_005268277.3:c.11654A>G XP_005268334.1:p.Asp3885Gly
XM_006720726.2:c.11753A>G XP_006720789.1:p.Asp3918Gly
XM_006720727.2:c.11510A>G XP_006720790.1:p.Asp3837Gly
XM_011522131.1:c.11285A>G XP_011520433.1:p.Asp3762Gly
XM_011522132.1:c.9284A>G XP_011520434.1:p.Asp3095Gly
XM_011522133.1:c.8513A>G XP_011520435.1:p.Asp2838Gly
XM_011522134.1:c.5885A>G XP_011520436.1:p.Asp1962Gly
XM_005268276.5:c.11654A>G XP_005268333.1:p.Asp3885Gly
XM_006720726.3:c.11753A>G XP_006720789.1:p.Asp3918Gly
XM_006720727.3:c.11510A>G XP_006720790.1:p.Asp3837Gly
XM_017022695.1:c.11654A>G XP_016878184.1:p.Asp3885Gly
XM_017022696.1:c.11654A>G XP_016878185.1:p.Asp3885Gly
XM_017022697.1:c.4934A>G XP_016878186.1:p.Asp1645Gly
XM_017022698.1:c.4934A>G XP_016878187.1:p.Asp1645Gly
NM_004667.6:c.11768A>G MANE Select NP_004658.3:p.Asp3923Gly