Canonical Allele Identifier: CA391381595
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141595C>A , CM000677.2:g.28141595C>A GRCh38
NC_000015.9:g.28386741C>A , CM000677.1:g.28386741C>A GRCh37
NC_000015.8:g.26060336C>A NCBI36
NG_016355.1:g.185555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11852G>T MANE Select ENSP00000261609.8:p.Ser3951Ile
ENST00000650509.1:c.3563G>T ENSP00000496936.1:p.Ser1188Ile
ENST00000261609.11:c.11852G>T ENSP00000261609.7:p.Ser3951Ile
NM_004667.5:c.11852G>T NP_004658.3:p.Ser3951Ile
XM_005268276.3:c.11738G>T XP_005268333.1:p.Ser3913Ile
XM_005268277.3:c.11738G>T XP_005268334.1:p.Ser3913Ile
XM_006720726.2:c.11837G>T XP_006720789.1:p.Ser3946Ile
XM_006720727.2:c.11594G>T XP_006720790.1:p.Ser3865Ile
XM_011522131.1:c.11369G>T XP_011520433.1:p.Ser3790Ile
XM_011522132.1:c.9368G>T XP_011520434.1:p.Ser3123Ile
XM_011522133.1:c.8597G>T XP_011520435.1:p.Ser2866Ile
XM_011522134.1:c.5969G>T XP_011520436.1:p.Ser1990Ile
XM_005268276.5:c.11738G>T XP_005268333.1:p.Ser3913Ile
XM_006720726.3:c.11837G>T XP_006720789.1:p.Ser3946Ile
XM_006720727.3:c.11594G>T XP_006720790.1:p.Ser3865Ile
XM_017022695.1:c.11738G>T XP_016878184.1:p.Ser3913Ile
XM_017022696.1:c.11738G>T XP_016878185.1:p.Ser3913Ile
XM_017022697.1:c.5018G>T XP_016878186.1:p.Ser1673Ile
XM_017022698.1:c.5018G>T XP_016878187.1:p.Ser1673Ile
NM_004667.6:c.11852G>T MANE Select NP_004658.3:p.Ser3951Ile