Canonical Allele Identifier: CA267947371
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs994078943

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28207835C>G , CM000677.2:g.28207835C>G GRCh38
NC_000015.9:g.28452981C>G , CM000677.1:g.28452981C>G GRCh37
NC_000015.8:g.26126576C>G NCBI36
NG_016355.1:g.119315G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.7070-1453G>C MANE Select ENSP00000261609.8:n.7070-1453G>C
ENST00000261609.11:c.7070-1453G>C ENSP00000261609.7:n.7070-1453G>C
NM_004667.5:c.7070-1453G>C NP_004658.3:n.7070-1453G>C
XM_005268276.3:c.6956-1453G>C XP_005268333.1:n.6956-1453G>C
XM_005268277.3:c.6956-1453G>C XP_005268334.1:n.6956-1453G>C
XM_006720726.2:c.7055-1453G>C XP_006720789.1:n.7055-1453G>C
XM_006720727.2:c.6812-1453G>C XP_006720790.1:n.6812-1453G>C
XM_011522131.1:c.6587-1453G>C XP_011520433.1:n.6587-1453G>C
XM_011522132.1:c.4586-1453G>C XP_011520434.1:n.4586-1453G>C
XM_011522133.1:c.3815-1453G>C XP_011520435.1:n.3815-1453G>C
XM_011522134.1:c.1187-1453G>C XP_011520436.1:n.1187-1453G>C
XM_011522135.1:c.7070-1453G>C XP_011520437.1:n.7070-1453G>C
XM_011522136.1:c.7070-1453G>C XP_011520438.1:n.7070-1453G>C
XM_011522137.1:c.7070-1453G>C XP_011520439.1:n.7070-1453G>C
XR_931930.1:n.7199-1453G>C
XR_931931.1:n.7199-1453G>C
XM_005268276.5:c.6956-1453G>C XP_005268333.1:n.6956-1453G>C
XM_006720726.3:c.7055-1453G>C XP_006720789.1:n.7055-1453G>C
XM_006720727.3:c.6812-1453G>C XP_006720790.1:n.6812-1453G>C
XM_017022695.1:c.6956-1453G>C XP_016878184.1:n.6956-1453G>C
XM_017022696.1:c.6956-1453G>C XP_016878185.1:n.6956-1453G>C
XM_017022697.1:c.236-1453G>C XP_016878186.1:n.236-1453G>C
XM_017022698.1:c.236-1453G>C XP_016878187.1:n.236-1453G>C
XR_001751410.1:n.7200-1453G>C
XR_931930.2:n.7200-1453G>C
NM_004667.6:c.7070-1453G>C MANE Select NP_004658.3:n.7070-1453G>C