Canonical Allele Identifier: CA711739080
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1411710089

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28285049A>C , CM000677.2:g.28285049A>C GRCh38
NC_000015.9:g.28530195A>C , CM000677.1:g.28530195A>C GRCh37
NC_000015.8:g.26203790A>C NCBI36
NG_016355.1:g.42101T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.323-4762T>G MANE Select ENSP00000261609.8:n.323-4762T>G
ENST00000261609.11:c.323-4762T>G ENSP00000261609.7:n.323-4762T>G
ENST00000564383.1:n.218-4762T>G
ENST00000564734.5:c.*193-4762T>G ENSP00000456237.1:n.*193-4762T>G
NM_004667.5:c.323-4762T>G NP_004658.3:n.323-4762T>G
XM_005268276.3:c.209-4762T>G XP_005268333.1:n.209-4762T>G
XM_005268277.3:c.209-4762T>G XP_005268334.1:n.209-4762T>G
XM_006720726.2:c.323-4762T>G XP_006720789.1:n.323-4762T>G
XM_006720727.2:c.323-4762T>G XP_006720790.1:n.323-4762T>G
XM_011522133.1:c.322+7839T>G XP_011520435.1:n.322+7839T>G
XM_011522135.1:c.323-4762T>G XP_011520437.1:n.323-4762T>G
XM_011522136.1:c.323-4762T>G XP_011520438.1:n.323-4762T>G
XM_011522137.1:c.323-4762T>G XP_011520439.1:n.323-4762T>G
XR_931930.1:n.452-4762T>G
XR_931931.1:n.452-4762T>G
XM_005268276.5:c.209-4762T>G XP_005268333.1:n.209-4762T>G
XM_006720726.3:c.323-4762T>G XP_006720789.1:n.323-4762T>G
XM_006720727.3:c.323-4762T>G XP_006720790.1:n.323-4762T>G
XM_017022695.1:c.209-4762T>G XP_016878184.1:n.209-4762T>G
XM_017022696.1:c.209-4762T>G XP_016878185.1:n.209-4762T>G
XR_001751410.1:n.453-4762T>G
XR_931930.2:n.453-4762T>G
NM_004667.6:c.323-4762T>G MANE Select NP_004658.3:n.323-4762T>G