Canonical Allele Identifier: CA391381515
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141575C>A , CM000677.2:g.28141575C>A GRCh38
NC_000015.9:g.28386721C>A , CM000677.1:g.28386721C>A GRCh37
NC_000015.8:g.26060316C>A NCBI36
NG_016355.1:g.185575G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11872G>T MANE Select ENSP00000261609.8:p.Gly3958Ter
ENST00000650509.1:c.3583G>T ENSP00000496936.1:p.Gly1195Ter
ENST00000261609.11:c.11872G>T ENSP00000261609.7:p.Gly3958Ter
NM_004667.5:c.11872G>T NP_004658.3:p.Gly3958Ter
XM_005268276.3:c.11758G>T XP_005268333.1:p.Gly3920Ter
XM_005268277.3:c.11758G>T XP_005268334.1:p.Gly3920Ter
XM_006720726.2:c.11857G>T XP_006720789.1:p.Gly3953Ter
XM_006720727.2:c.11614G>T XP_006720790.1:p.Gly3872Ter
XM_011522131.1:c.11389G>T XP_011520433.1:p.Gly3797Ter
XM_011522132.1:c.9388G>T XP_011520434.1:p.Gly3130Ter
XM_011522133.1:c.8617G>T XP_011520435.1:p.Gly2873Ter
XM_011522134.1:c.5989G>T XP_011520436.1:p.Gly1997Ter
XM_005268276.5:c.11758G>T XP_005268333.1:p.Gly3920Ter
XM_006720726.3:c.11857G>T XP_006720789.1:p.Gly3953Ter
XM_006720727.3:c.11614G>T XP_006720790.1:p.Gly3872Ter
XM_017022695.1:c.11758G>T XP_016878184.1:p.Gly3920Ter
XM_017022696.1:c.11758G>T XP_016878185.1:p.Gly3920Ter
XM_017022697.1:c.5038G>T XP_016878186.1:p.Gly1680Ter
XM_017022698.1:c.5038G>T XP_016878187.1:p.Gly1680Ter
NM_004667.6:c.11872G>T MANE Select NP_004658.3:p.Gly3958Ter