Canonical Allele Identifier: CA391380861
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141443C>A , CM000677.2:g.28141443C>A GRCh38
NC_000015.9:g.28386589C>A , CM000677.1:g.28386589C>A GRCh37
NC_000015.8:g.26060184C>A NCBI36
NG_016355.1:g.185707G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.12004G>T MANE Select ENSP00000261609.8:p.Ala4002Ser
ENST00000650509.1:c.3715G>T ENSP00000496936.1:p.Ala1239Ser
ENST00000261609.11:c.12004G>T ENSP00000261609.7:p.Ala4002Ser
NM_004667.5:c.12004G>T NP_004658.3:p.Ala4002Ser
XM_005268276.3:c.11890G>T XP_005268333.1:p.Ala3964Ser
XM_005268277.3:c.11890G>T XP_005268334.1:p.Ala3964Ser
XM_006720726.2:c.11989G>T XP_006720789.1:p.Ala3997Ser
XM_006720727.2:c.11746G>T XP_006720790.1:p.Ala3916Ser
XM_011522131.1:c.11521G>T XP_011520433.1:p.Ala3841Ser
XM_011522132.1:c.9520G>T XP_011520434.1:p.Ala3174Ser
XM_011522133.1:c.8749G>T XP_011520435.1:p.Ala2917Ser
XM_011522134.1:c.6121G>T XP_011520436.1:p.Ala2041Ser
XM_005268276.5:c.11890G>T XP_005268333.1:p.Ala3964Ser
XM_006720726.3:c.11989G>T XP_006720789.1:p.Ala3997Ser
XM_006720727.3:c.11746G>T XP_006720790.1:p.Ala3916Ser
XM_017022695.1:c.11890G>T XP_016878184.1:p.Ala3964Ser
XM_017022696.1:c.11890G>T XP_016878185.1:p.Ala3964Ser
XM_017022697.1:c.5170G>T XP_016878186.1:p.Ala1724Ser
XM_017022698.1:c.5170G>T XP_016878187.1:p.Ala1724Ser
NM_004667.6:c.12004G>T MANE Select NP_004658.3:p.Ala4002Ser