Canonical Allele Identifier: CA391381786
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141733G>T , CM000677.2:g.28141733G>T GRCh38
NC_000015.9:g.28386879G>T , CM000677.1:g.28386879G>T GRCh37
NC_000015.8:g.26060474G>T NCBI36
NG_016355.1:g.185417C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11814C>A MANE Select ENSP00000261609.8:p.Asn3938Lys
ENST00000650509.1:c.3525C>A ENSP00000496936.1:p.Asn1175Lys
ENST00000261609.11:c.11814C>A ENSP00000261609.7:p.Asn3938Lys
NM_004667.5:c.11814C>A NP_004658.3:p.Asn3938Lys
XM_005268276.3:c.11700C>A XP_005268333.1:p.Asn3900Lys
XM_005268277.3:c.11700C>A XP_005268334.1:p.Asn3900Lys
XM_006720726.2:c.11799C>A XP_006720789.1:p.Asn3933Lys
XM_006720727.2:c.11556C>A XP_006720790.1:p.Asn3852Lys
XM_011522131.1:c.11331C>A XP_011520433.1:p.Asn3777Lys
XM_011522132.1:c.9330C>A XP_011520434.1:p.Asn3110Lys
XM_011522133.1:c.8559C>A XP_011520435.1:p.Asn2853Lys
XM_011522134.1:c.5931C>A XP_011520436.1:p.Asn1977Lys
XM_005268276.5:c.11700C>A XP_005268333.1:p.Asn3900Lys
XM_006720726.3:c.11799C>A XP_006720789.1:p.Asn3933Lys
XM_006720727.3:c.11556C>A XP_006720790.1:p.Asn3852Lys
XM_017022695.1:c.11700C>A XP_016878184.1:p.Asn3900Lys
XM_017022696.1:c.11700C>A XP_016878185.1:p.Asn3900Lys
XM_017022697.1:c.4980C>A XP_016878186.1:p.Asn1660Lys
XM_017022698.1:c.4980C>A XP_016878187.1:p.Asn1660Lys
NM_004667.6:c.11814C>A MANE Select NP_004658.3:p.Asn3938Lys