Canonical Allele Identifier: CA391381796
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141735T>G , CM000677.2:g.28141735T>G GRCh38
NC_000015.9:g.28386881T>G , CM000677.1:g.28386881T>G GRCh37
NC_000015.8:g.26060476T>G NCBI36
NG_016355.1:g.185415A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11812A>C MANE Select ENSP00000261609.8:p.Asn3938His
ENST00000650509.1:c.3523A>C ENSP00000496936.1:p.Asn1175His
ENST00000261609.11:c.11812A>C ENSP00000261609.7:p.Asn3938His
NM_004667.5:c.11812A>C NP_004658.3:p.Asn3938His
XM_005268276.3:c.11698A>C XP_005268333.1:p.Asn3900His
XM_005268277.3:c.11698A>C XP_005268334.1:p.Asn3900His
XM_006720726.2:c.11797A>C XP_006720789.1:p.Asn3933His
XM_006720727.2:c.11554A>C XP_006720790.1:p.Asn3852His
XM_011522131.1:c.11329A>C XP_011520433.1:p.Asn3777His
XM_011522132.1:c.9328A>C XP_011520434.1:p.Asn3110His
XM_011522133.1:c.8557A>C XP_011520435.1:p.Asn2853His
XM_011522134.1:c.5929A>C XP_011520436.1:p.Asn1977His
XM_005268276.5:c.11698A>C XP_005268333.1:p.Asn3900His
XM_006720726.3:c.11797A>C XP_006720789.1:p.Asn3933His
XM_006720727.3:c.11554A>C XP_006720790.1:p.Asn3852His
XM_017022695.1:c.11698A>C XP_016878184.1:p.Asn3900His
XM_017022696.1:c.11698A>C XP_016878185.1:p.Asn3900His
XM_017022697.1:c.4978A>C XP_016878186.1:p.Asn1660His
XM_017022698.1:c.4978A>C XP_016878187.1:p.Asn1660His
NM_004667.6:c.11812A>C MANE Select NP_004658.3:p.Asn3938His