Canonical Allele Identifier: CA14128526
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs7183877

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28120587C>A , CM000677.2:g.28120587C>A GRCh38
NC_000015.9:g.28365733C>A , CM000677.1:g.28365733C>A GRCh37
NC_000015.8:g.26039328C>A NCBI36
NG_016355.1:g.206563G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.13272+759G>T MANE Select ENSP00000261609.8:n.13272+759G>T
ENST00000650509.1:c.4751+759G>T ENSP00000496936.1:n.4751+759G>T
ENST00000261609.11:c.13272+759G>T ENSP00000261609.7:n.13272+759G>T
NM_004667.5:c.13272+759G>T NP_004658.3:n.13272+759G>T
XM_005268276.3:c.13158+759G>T XP_005268333.1:n.13158+759G>T
XM_005268277.3:c.13158+759G>T XP_005268334.1:n.13158+759G>T
XM_006720726.2:c.13257+759G>T XP_006720789.1:n.13257+759G>T
XM_006720727.2:c.13014+759G>T XP_006720790.1:n.13014+759G>T
XM_011522131.1:c.12789+759G>T XP_011520433.1:n.12789+759G>T
XM_011522132.1:c.10788+759G>T XP_011520434.1:n.10788+759G>T
XM_011522133.1:c.10017+759G>T XP_011520435.1:n.10017+759G>T
XM_011522134.1:c.7389+759G>T XP_011520436.1:n.7389+759G>T
XM_005268276.5:c.13158+759G>T XP_005268333.1:n.13158+759G>T
XM_006720726.3:c.13257+759G>T XP_006720789.1:n.13257+759G>T
XM_006720727.3:c.13014+759G>T XP_006720790.1:n.13014+759G>T
XM_017022695.1:c.13158+759G>T XP_016878184.1:n.13158+759G>T
XM_017022696.1:c.13158+759G>T XP_016878185.1:n.13158+759G>T
XM_017022697.1:c.6438+759G>T XP_016878186.1:n.6438+759G>T
XM_017022698.1:c.6438+759G>T XP_016878187.1:n.6438+759G>T
NM_004667.6:c.13272+759G>T MANE Select NP_004658.3:n.13272+759G>T