Canonical Allele Identifier: CA117045
Gene: HERC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4743
ClinVar RCV Id: RCV000005009
dbSNP Id: rs1667394

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28285036C>T , CM000677.2:g.28285036C>T GRCh38
NC_000015.9:g.28530182C>T , CM000677.1:g.28530182C>T GRCh37
NC_000015.8:g.26203777C>T NCBI36
NG_016355.1:g.42114G>A

Transcript Alleles

HGVS Amino-acid change
NM_004667.5:c.323-4749G>A VV NP_004658.3:p.=
XM_005268276.3:c.209-4749G>A XP_005268333.1:p.=
XM_005268277.3:c.209-4749G>A XP_005268334.1:p.=
XM_006720726.2:c.323-4749G>A XP_006720789.1:p.=
XM_006720727.2:c.323-4749G>A XP_006720790.1:p.=
XM_011522133.1:c.322+7852G>A XP_011520435.1:p.=
XM_011522135.1:c.323-4749G>A XP_011520437.1:p.=
XM_011522136.1:c.323-4749G>A XP_011520438.1:p.=
XM_011522137.1:c.323-4749G>A XP_011520439.1:p.=
XR_931930.1:n.452-4749G>A
XR_931931.1:n.452-4749G>A
XM_005268276.5:c.209-4749G>A XP_005268333.1:p.=
XM_006720726.3:c.323-4749G>A XP_006720789.1:p.=
XM_006720727.3:c.323-4749G>A XP_006720790.1:p.=
XM_017022695.1:c.209-4749G>A XP_016878184.1:p.=
XM_017022696.1:c.209-4749G>A XP_016878185.1:p.=
XR_001751410.1:n.453-4749G>A
XR_931930.2:n.453-4749G>A
ENST00000261609.11:c.323-4749G>A ENSP00000261609.7:p.=
ENST00000564383.1:n.218-4749G>A
ENST00000564734.5:c.*193-4749G>A ENSP00000456237.1:p.=