Canonical Allele Identifier: CA2627397807
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28268313A>G , CM000677.2:g.28268313A>G GRCh38
NC_000015.9:g.28513459A>G , CM000677.1:g.28513459A>G GRCh37
NC_000015.8:g.26187054A>G NCBI36
NG_016355.1:g.58837T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.1598+152T>C MANE Select ENSP00000261609.8:n.1598+152T>C
ENST00000261609.11:c.1598+152T>C ENSP00000261609.7:n.1598+152T>C
ENST00000564734.5:c.*1468+152T>C ENSP00000456237.1:n.*1468+152T>C
NM_004667.5:c.1598+152T>C NP_004658.3:n.1598+152T>C
XM_005268276.3:c.1484+152T>C XP_005268333.1:n.1484+152T>C
XM_005268277.3:c.1484+152T>C XP_005268334.1:n.1484+152T>C
XM_006720726.2:c.1598+152T>C XP_006720789.1:n.1598+152T>C
XM_006720727.2:c.1340+152T>C XP_006720790.1:n.1340+152T>C
XM_011522131.1:c.1115+152T>C XP_011520433.1:n.1115+152T>C
XM_011522132.1:c.107+3902T>C XP_011520434.1:n.107+3902T>C
XM_011522133.1:c.322+24575T>C XP_011520435.1:n.322+24575T>C
XM_011522135.1:c.1598+152T>C XP_011520437.1:n.1598+152T>C
XM_011522136.1:c.1598+152T>C XP_011520438.1:n.1598+152T>C
XM_011522137.1:c.1598+152T>C XP_011520439.1:n.1598+152T>C
XR_931930.1:n.1727+152T>C
XR_931931.1:n.1727+152T>C
XM_005268276.5:c.1484+152T>C XP_005268333.1:n.1484+152T>C
XM_006720726.3:c.1598+152T>C XP_006720789.1:n.1598+152T>C
XM_006720727.3:c.1340+152T>C XP_006720790.1:n.1340+152T>C
XM_017022695.1:c.1484+152T>C XP_016878184.1:n.1484+152T>C
XM_017022696.1:c.1484+152T>C XP_016878185.1:n.1484+152T>C
XR_001751410.1:n.1728+152T>C
XR_931930.2:n.1728+152T>C
NM_004667.6:c.1598+152T>C MANE Select NP_004658.3:n.1598+152T>C