Canonical Allele Identifier: CA391381865
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141762G>A , CM000677.2:g.28141762G>A GRCh38
NC_000015.9:g.28386908G>A , CM000677.1:g.28386908G>A GRCh37
NC_000015.8:g.26060503G>A NCBI36
NG_016355.1:g.185388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11785C>T MANE Select ENSP00000261609.8:p.Gln3929Ter
ENST00000650509.1:c.3496C>T ENSP00000496936.1:p.Gln1166Ter
ENST00000261609.11:c.11785C>T ENSP00000261609.7:p.Gln3929Ter
ENST00000564519.1:n.300C>T
NM_004667.5:c.11785C>T NP_004658.3:p.Gln3929Ter
XM_005268276.3:c.11671C>T XP_005268333.1:p.Gln3891Ter
XM_005268277.3:c.11671C>T XP_005268334.1:p.Gln3891Ter
XM_006720726.2:c.11770C>T XP_006720789.1:p.Gln3924Ter
XM_006720727.2:c.11527C>T XP_006720790.1:p.Gln3843Ter
XM_011522131.1:c.11302C>T XP_011520433.1:p.Gln3768Ter
XM_011522132.1:c.9301C>T XP_011520434.1:p.Gln3101Ter
XM_011522133.1:c.8530C>T XP_011520435.1:p.Gln2844Ter
XM_011522134.1:c.5902C>T XP_011520436.1:p.Gln1968Ter
XM_005268276.5:c.11671C>T XP_005268333.1:p.Gln3891Ter
XM_006720726.3:c.11770C>T XP_006720789.1:p.Gln3924Ter
XM_006720727.3:c.11527C>T XP_006720790.1:p.Gln3843Ter
XM_017022695.1:c.11671C>T XP_016878184.1:p.Gln3891Ter
XM_017022696.1:c.11671C>T XP_016878185.1:p.Gln3891Ter
XM_017022697.1:c.4951C>T XP_016878186.1:p.Gln1651Ter
XM_017022698.1:c.4951C>T XP_016878187.1:p.Gln1651Ter
NM_004667.6:c.11785C>T MANE Select NP_004658.3:p.Gln3929Ter