Canonical Allele Identifier: CA14193430
Gene: HERC2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs8028689

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28243742T>C , CM000677.2:g.28243742T>C GRCh38
NC_000015.9:g.28488888T>C , CM000677.1:g.28488888T>C GRCh37
NC_000015.8:g.26162483T>C NCBI36
NG_016355.1:g.83408A>G

Transcript Alleles

HGVS Amino-acid change
NM_004667.5:c.3577+2139A>G VV NP_004658.3:p.=
XM_005268276.3:c.3463+2139A>G XP_005268333.1:p.=
XM_005268277.3:c.3463+2139A>G XP_005268334.1:p.=
XM_006720726.2:c.3577+2139A>G XP_006720789.1:p.=
XM_006720727.2:c.3319+2139A>G XP_006720790.1:p.=
XM_011522131.1:c.3094+2139A>G XP_011520433.1:p.=
XM_011522132.1:c.1093+2139A>G XP_011520434.1:p.=
XM_011522133.1:c.323-4970A>G XP_011520435.1:p.=
XM_011522135.1:c.3577+2139A>G XP_011520437.1:p.=
XM_011522136.1:c.3577+2139A>G XP_011520438.1:p.=
XM_011522137.1:c.3577+2139A>G XP_011520439.1:p.=
XR_931930.1:n.3706+2139A>G
XR_931931.1:n.3706+2139A>G
XM_005268276.5:c.3463+2139A>G XP_005268333.1:p.=
XM_006720726.3:c.3577+2139A>G XP_006720789.1:p.=
XM_006720727.3:c.3319+2139A>G XP_006720790.1:p.=
XM_017022695.1:c.3463+2139A>G XP_016878184.1:p.=
XM_017022696.1:c.3463+2139A>G XP_016878185.1:p.=
XR_001751410.1:n.3707+2139A>G
XR_931930.2:n.3707+2139A>G
ENST00000261609.11:c.3577+2139A>G ENSP00000261609.7:p.=