Canonical Allele Identifier: CA7440427
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs767118009

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141486G>A , CM000677.2:g.28141486G>A GRCh38
NC_000015.9:g.28386632G>A , CM000677.1:g.28386632G>A GRCh37
NC_000015.8:g.26060227G>A NCBI36
NG_016355.1:g.185664C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11961C>T MANE Select ENSP00000261609.8:p.Pro3987=
ENST00000650509.1:c.3672C>T ENSP00000496936.1:p.Pro1224=
ENST00000261609.11:c.11961C>T ENSP00000261609.7:p.Pro3987=
NM_004667.5:c.11961C>T NP_004658.3:p.Pro3987=
XM_005268276.3:c.11847C>T XP_005268333.1:p.Pro3949=
XM_005268277.3:c.11847C>T XP_005268334.1:p.Pro3949=
XM_006720726.2:c.11946C>T XP_006720789.1:p.Pro3982=
XM_006720727.2:c.11703C>T XP_006720790.1:p.Pro3901=
XM_011522131.1:c.11478C>T XP_011520433.1:p.Pro3826=
XM_011522132.1:c.9477C>T XP_011520434.1:p.Pro3159=
XM_011522133.1:c.8706C>T XP_011520435.1:p.Pro2902=
XM_011522134.1:c.6078C>T XP_011520436.1:p.Pro2026=
XM_005268276.5:c.11847C>T XP_005268333.1:p.Pro3949=
XM_006720726.3:c.11946C>T XP_006720789.1:p.Pro3982=
XM_006720727.3:c.11703C>T XP_006720790.1:p.Pro3901=
XM_017022695.1:c.11847C>T XP_016878184.1:p.Pro3949=
XM_017022696.1:c.11847C>T XP_016878185.1:p.Pro3949=
XM_017022697.1:c.5127C>T XP_016878186.1:p.Pro1709=
XM_017022698.1:c.5127C>T XP_016878187.1:p.Pro1709=
NM_004667.6:c.11961C>T MANE Select NP_004658.3:p.Pro3987=