Canonical Allele Identifier: CA391381150
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141491T>C , CM000677.2:g.28141491T>C GRCh38
NC_000015.9:g.28386637T>C , CM000677.1:g.28386637T>C GRCh37
NC_000015.8:g.26060232T>C NCBI36
NG_016355.1:g.185659A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11956A>G MANE Select ENSP00000261609.8:p.Arg3986Gly
ENST00000650509.1:c.3667A>G ENSP00000496936.1:p.Arg1223Gly
ENST00000261609.11:c.11956A>G ENSP00000261609.7:p.Arg3986Gly
NM_004667.5:c.11956A>G NP_004658.3:p.Arg3986Gly
XM_005268276.3:c.11842A>G XP_005268333.1:p.Arg3948Gly
XM_005268277.3:c.11842A>G XP_005268334.1:p.Arg3948Gly
XM_006720726.2:c.11941A>G XP_006720789.1:p.Arg3981Gly
XM_006720727.2:c.11698A>G XP_006720790.1:p.Arg3900Gly
XM_011522131.1:c.11473A>G XP_011520433.1:p.Arg3825Gly
XM_011522132.1:c.9472A>G XP_011520434.1:p.Arg3158Gly
XM_011522133.1:c.8701A>G XP_011520435.1:p.Arg2901Gly
XM_011522134.1:c.6073A>G XP_011520436.1:p.Arg2025Gly
XM_005268276.5:c.11842A>G XP_005268333.1:p.Arg3948Gly
XM_006720726.3:c.11941A>G XP_006720789.1:p.Arg3981Gly
XM_006720727.3:c.11698A>G XP_006720790.1:p.Arg3900Gly
XM_017022695.1:c.11842A>G XP_016878184.1:p.Arg3948Gly
XM_017022696.1:c.11842A>G XP_016878185.1:p.Arg3948Gly
XM_017022697.1:c.5122A>G XP_016878186.1:p.Arg1708Gly
XM_017022698.1:c.5122A>G XP_016878187.1:p.Arg1708Gly
NM_004667.6:c.11956A>G MANE Select NP_004658.3:p.Arg3986Gly