Canonical Allele Identifier: CA391382053
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11704G>T MANE Select ENSP00000261609.8:p.Ala3902Ser
ENST00000650509.1:c.3415G>T ENSP00000496936.1:p.Ala1139Ser
ENST00000261609.11:c.11704G>T ENSP00000261609.7:p.Ala3902Ser
ENST00000564519.1:n.219G>T
NM_004667.5:c.11704G>T NP_004658.3:p.Ala3902Ser
XM_005268276.3:c.11590G>T XP_005268333.1:p.Ala3864Ser
XM_005268277.3:c.11590G>T XP_005268334.1:p.Ala3864Ser
XM_006720726.2:c.11689G>T XP_006720789.1:p.Ala3897Ser
XM_006720727.2:c.11446G>T XP_006720790.1:p.Ala3816Ser
XM_011522131.1:c.11221G>T XP_011520433.1:p.Ala3741Ser
XM_011522132.1:c.9220G>T XP_011520434.1:p.Ala3074Ser
XM_011522133.1:c.8449G>T XP_011520435.1:p.Ala2817Ser
XM_011522134.1:c.5821G>T XP_011520436.1:p.Ala1941Ser
XM_005268276.5:c.11590G>T XP_005268333.1:p.Ala3864Ser
XM_006720726.3:c.11689G>T XP_006720789.1:p.Ala3897Ser
XM_006720727.3:c.11446G>T XP_006720790.1:p.Ala3816Ser
XM_017022695.1:c.11590G>T XP_016878184.1:p.Ala3864Ser
XM_017022696.1:c.11590G>T XP_016878185.1:p.Ala3864Ser
XM_017022697.1:c.4870G>T XP_016878186.1:p.Ala1624Ser
XM_017022698.1:c.4870G>T XP_016878187.1:p.Ala1624Ser
NM_004667.6:c.11704G>T MANE Select NP_004658.3:p.Ala3902Ser