Canonical Allele Identifier: CA391381190
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141500C>A , CM000677.2:g.28141500C>A GRCh38
NC_000015.9:g.28386646C>A , CM000677.1:g.28386646C>A GRCh37
NC_000015.8:g.26060241C>A NCBI36
NG_016355.1:g.185650G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11947G>T MANE Select ENSP00000261609.8:p.Ala3983Ser
ENST00000650509.1:c.3658G>T ENSP00000496936.1:p.Ala1220Ser
ENST00000261609.11:c.11947G>T ENSP00000261609.7:p.Ala3983Ser
NM_004667.5:c.11947G>T NP_004658.3:p.Ala3983Ser
XM_005268276.3:c.11833G>T XP_005268333.1:p.Ala3945Ser
XM_005268277.3:c.11833G>T XP_005268334.1:p.Ala3945Ser
XM_006720726.2:c.11932G>T XP_006720789.1:p.Ala3978Ser
XM_006720727.2:c.11689G>T XP_006720790.1:p.Ala3897Ser
XM_011522131.1:c.11464G>T XP_011520433.1:p.Ala3822Ser
XM_011522132.1:c.9463G>T XP_011520434.1:p.Ala3155Ser
XM_011522133.1:c.8692G>T XP_011520435.1:p.Ala2898Ser
XM_011522134.1:c.6064G>T XP_011520436.1:p.Ala2022Ser
XM_005268276.5:c.11833G>T XP_005268333.1:p.Ala3945Ser
XM_006720726.3:c.11932G>T XP_006720789.1:p.Ala3978Ser
XM_006720727.3:c.11689G>T XP_006720790.1:p.Ala3897Ser
XM_017022695.1:c.11833G>T XP_016878184.1:p.Ala3945Ser
XM_017022696.1:c.11833G>T XP_016878185.1:p.Ala3945Ser
XM_017022697.1:c.5113G>T XP_016878186.1:p.Ala1705Ser
XM_017022698.1:c.5113G>T XP_016878187.1:p.Ala1705Ser
NM_004667.6:c.11947G>T MANE Select NP_004658.3:p.Ala3983Ser