Canonical Allele Identifier: CA391381883
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141769T>G , CM000677.2:g.28141769T>G GRCh38
NC_000015.9:g.28386915T>G , CM000677.1:g.28386915T>G GRCh37
NC_000015.8:g.26060510T>G NCBI36
NG_016355.1:g.185381A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11778A>C MANE Select ENSP00000261609.8:p.Lys3926Asn
ENST00000650509.1:c.3489A>C ENSP00000496936.1:p.Lys1163Asn
ENST00000261609.11:c.11778A>C ENSP00000261609.7:p.Lys3926Asn
ENST00000564519.1:n.293A>C
NM_004667.5:c.11778A>C NP_004658.3:p.Lys3926Asn
XM_005268276.3:c.11664A>C XP_005268333.1:p.Lys3888Asn
XM_005268277.3:c.11664A>C XP_005268334.1:p.Lys3888Asn
XM_006720726.2:c.11763A>C XP_006720789.1:p.Lys3921Asn
XM_006720727.2:c.11520A>C XP_006720790.1:p.Lys3840Asn
XM_011522131.1:c.11295A>C XP_011520433.1:p.Lys3765Asn
XM_011522132.1:c.9294A>C XP_011520434.1:p.Lys3098Asn
XM_011522133.1:c.8523A>C XP_011520435.1:p.Lys2841Asn
XM_011522134.1:c.5895A>C XP_011520436.1:p.Lys1965Asn
XM_005268276.5:c.11664A>C XP_005268333.1:p.Lys3888Asn
XM_006720726.3:c.11763A>C XP_006720789.1:p.Lys3921Asn
XM_006720727.3:c.11520A>C XP_006720790.1:p.Lys3840Asn
XM_017022695.1:c.11664A>C XP_016878184.1:p.Lys3888Asn
XM_017022696.1:c.11664A>C XP_016878185.1:p.Lys3888Asn
XM_017022697.1:c.4944A>C XP_016878186.1:p.Lys1648Asn
XM_017022698.1:c.4944A>C XP_016878187.1:p.Lys1648Asn
NM_004667.6:c.11778A>C MANE Select NP_004658.3:p.Lys3926Asn