Canonical Allele Identifier: CA14157488
Gene: HERC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4744
ClinVar RCV Id: RCV000005010
dbSNP Id: rs916977

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28268218T>C , CM000677.2:g.28268218T>C GRCh38
NC_000015.9:g.28513364T>C , CM000677.1:g.28513364T>C GRCh37
NC_000015.8:g.26186959T>C NCBI36
NG_016355.1:g.58932A>G

Transcript Alleles

HGVS Amino-acid change
NM_004667.5:c.1598+247A>G VV NP_004658.3:p.=
XM_005268276.3:c.1484+247A>G XP_005268333.1:p.=
XM_005268277.3:c.1484+247A>G XP_005268334.1:p.=
XM_006720726.2:c.1598+247A>G XP_006720789.1:p.=
XM_006720727.2:c.1340+247A>G XP_006720790.1:p.=
XM_011522131.1:c.1115+247A>G XP_011520433.1:p.=
XM_011522132.1:c.107+3997A>G XP_011520434.1:p.=
XM_011522133.1:c.322+24670A>G XP_011520435.1:p.=
XM_011522135.1:c.1598+247A>G XP_011520437.1:p.=
XM_011522136.1:c.1598+247A>G XP_011520438.1:p.=
XM_011522137.1:c.1598+247A>G XP_011520439.1:p.=
XR_931930.1:n.1727+247A>G
XR_931931.1:n.1727+247A>G
XM_005268276.5:c.1484+247A>G XP_005268333.1:p.=
XM_006720726.3:c.1598+247A>G XP_006720789.1:p.=
XM_006720727.3:c.1340+247A>G XP_006720790.1:p.=
XM_017022695.1:c.1484+247A>G XP_016878184.1:p.=
XM_017022696.1:c.1484+247A>G XP_016878185.1:p.=
XR_001751410.1:n.1728+247A>G
XR_931930.2:n.1728+247A>G
ENST00000261609.11:c.1598+247A>G ENSP00000261609.7:p.=
ENST00000564734.5:c.*1468+247A>G ENSP00000456237.1:p.=