Canonical Allele Identifier: CA391381909
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141780C>A , CM000677.2:g.28141780C>A GRCh38
NC_000015.9:g.28386926C>A , CM000677.1:g.28386926C>A GRCh37
NC_000015.8:g.26060521C>A NCBI36
NG_016355.1:g.185370G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11767G>T MANE Select ENSP00000261609.8:p.Asp3923Tyr
ENST00000650509.1:c.3478G>T ENSP00000496936.1:p.Asp1160Tyr
ENST00000261609.11:c.11767G>T ENSP00000261609.7:p.Asp3923Tyr
ENST00000564519.1:n.282G>T
NM_004667.5:c.11767G>T NP_004658.3:p.Asp3923Tyr
XM_005268276.3:c.11653G>T XP_005268333.1:p.Asp3885Tyr
XM_005268277.3:c.11653G>T XP_005268334.1:p.Asp3885Tyr
XM_006720726.2:c.11752G>T XP_006720789.1:p.Asp3918Tyr
XM_006720727.2:c.11509G>T XP_006720790.1:p.Asp3837Tyr
XM_011522131.1:c.11284G>T XP_011520433.1:p.Asp3762Tyr
XM_011522132.1:c.9283G>T XP_011520434.1:p.Asp3095Tyr
XM_011522133.1:c.8512G>T XP_011520435.1:p.Asp2838Tyr
XM_011522134.1:c.5884G>T XP_011520436.1:p.Asp1962Tyr
XM_005268276.5:c.11653G>T XP_005268333.1:p.Asp3885Tyr
XM_006720726.3:c.11752G>T XP_006720789.1:p.Asp3918Tyr
XM_006720727.3:c.11509G>T XP_006720790.1:p.Asp3837Tyr
XM_017022695.1:c.11653G>T XP_016878184.1:p.Asp3885Tyr
XM_017022696.1:c.11653G>T XP_016878185.1:p.Asp3885Tyr
XM_017022697.1:c.4933G>T XP_016878186.1:p.Asp1645Tyr
XM_017022698.1:c.4933G>T XP_016878187.1:p.Asp1645Tyr
NM_004667.6:c.11767G>T MANE Select NP_004658.3:p.Asp3923Tyr