Canonical Allele Identifier: CA968036432
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1397925859

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28285106G>A , CM000677.2:g.28285106G>A GRCh38
NC_000015.9:g.28530252G>A , CM000677.1:g.28530252G>A GRCh37
NC_000015.8:g.26203847G>A NCBI36
NG_016355.1:g.42044C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.323-4819C>T MANE Select ENSP00000261609.8:n.323-4819C>T
ENST00000261609.11:c.323-4819C>T ENSP00000261609.7:n.323-4819C>T
ENST00000564383.1:n.218-4819C>T
ENST00000564734.5:c.*193-4819C>T ENSP00000456237.1:n.*193-4819C>T
NM_004667.5:c.323-4819C>T NP_004658.3:n.323-4819C>T
XM_005268276.3:c.209-4819C>T XP_005268333.1:n.209-4819C>T
XM_005268277.3:c.209-4819C>T XP_005268334.1:n.209-4819C>T
XM_006720726.2:c.323-4819C>T XP_006720789.1:n.323-4819C>T
XM_006720727.2:c.323-4819C>T XP_006720790.1:n.323-4819C>T
XM_011522133.1:c.322+7782C>T XP_011520435.1:n.322+7782C>T
XM_011522135.1:c.323-4819C>T XP_011520437.1:n.323-4819C>T
XM_011522136.1:c.323-4819C>T XP_011520438.1:n.323-4819C>T
XM_011522137.1:c.323-4819C>T XP_011520439.1:n.323-4819C>T
XR_931930.1:n.452-4819C>T
XR_931931.1:n.452-4819C>T
XM_005268276.5:c.209-4819C>T XP_005268333.1:n.209-4819C>T
XM_006720726.3:c.323-4819C>T XP_006720789.1:n.323-4819C>T
XM_006720727.3:c.323-4819C>T XP_006720790.1:n.323-4819C>T
XM_017022695.1:c.209-4819C>T XP_016878184.1:n.209-4819C>T
XM_017022696.1:c.209-4819C>T XP_016878185.1:n.209-4819C>T
XR_001751410.1:n.453-4819C>T
XR_931930.2:n.453-4819C>T
NM_004667.6:c.323-4819C>T MANE Select NP_004658.3:n.323-4819C>T