Canonical Allele Identifier: CA391382054
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141843C>G , CM000677.2:g.28141843C>G GRCh38
NC_000015.9:g.28386989C>G , CM000677.1:g.28386989C>G GRCh37
NC_000015.8:g.26060584C>G NCBI36
NG_016355.1:g.185307G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11704G>C MANE Select ENSP00000261609.8:p.Ala3902Pro
ENST00000650509.1:c.3415G>C ENSP00000496936.1:p.Ala1139Pro
ENST00000261609.11:c.11704G>C ENSP00000261609.7:p.Ala3902Pro
ENST00000564519.1:n.219G>C
NM_004667.5:c.11704G>C NP_004658.3:p.Ala3902Pro
XM_005268276.3:c.11590G>C XP_005268333.1:p.Ala3864Pro
XM_005268277.3:c.11590G>C XP_005268334.1:p.Ala3864Pro
XM_006720726.2:c.11689G>C XP_006720789.1:p.Ala3897Pro
XM_006720727.2:c.11446G>C XP_006720790.1:p.Ala3816Pro
XM_011522131.1:c.11221G>C XP_011520433.1:p.Ala3741Pro
XM_011522132.1:c.9220G>C XP_011520434.1:p.Ala3074Pro
XM_011522133.1:c.8449G>C XP_011520435.1:p.Ala2817Pro
XM_011522134.1:c.5821G>C XP_011520436.1:p.Ala1941Pro
XM_005268276.5:c.11590G>C XP_005268333.1:p.Ala3864Pro
XM_006720726.3:c.11689G>C XP_006720789.1:p.Ala3897Pro
XM_006720727.3:c.11446G>C XP_006720790.1:p.Ala3816Pro
XM_017022695.1:c.11590G>C XP_016878184.1:p.Ala3864Pro
XM_017022696.1:c.11590G>C XP_016878185.1:p.Ala3864Pro
XM_017022697.1:c.4870G>C XP_016878186.1:p.Ala1624Pro
XM_017022698.1:c.4870G>C XP_016878187.1:p.Ala1624Pro
NM_004667.6:c.11704G>C MANE Select NP_004658.3:p.Ala3902Pro