Canonical Allele Identifier: CA391380925
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141454A>T , CM000677.2:g.28141454A>T GRCh38
NC_000015.9:g.28386600A>T , CM000677.1:g.28386600A>T GRCh37
NC_000015.8:g.26060195A>T NCBI36
NG_016355.1:g.185696T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11993T>A MANE Select ENSP00000261609.8:p.Phe3998Tyr
ENST00000650509.1:c.3704T>A ENSP00000496936.1:p.Phe1235Tyr
ENST00000261609.11:c.11993T>A ENSP00000261609.7:p.Phe3998Tyr
NM_004667.5:c.11993T>A NP_004658.3:p.Phe3998Tyr
XM_005268276.3:c.11879T>A XP_005268333.1:p.Phe3960Tyr
XM_005268277.3:c.11879T>A XP_005268334.1:p.Phe3960Tyr
XM_006720726.2:c.11978T>A XP_006720789.1:p.Phe3993Tyr
XM_006720727.2:c.11735T>A XP_006720790.1:p.Phe3912Tyr
XM_011522131.1:c.11510T>A XP_011520433.1:p.Phe3837Tyr
XM_011522132.1:c.9509T>A XP_011520434.1:p.Phe3170Tyr
XM_011522133.1:c.8738T>A XP_011520435.1:p.Phe2913Tyr
XM_011522134.1:c.6110T>A XP_011520436.1:p.Phe2037Tyr
XM_005268276.5:c.11879T>A XP_005268333.1:p.Phe3960Tyr
XM_006720726.3:c.11978T>A XP_006720789.1:p.Phe3993Tyr
XM_006720727.3:c.11735T>A XP_006720790.1:p.Phe3912Tyr
XM_017022695.1:c.11879T>A XP_016878184.1:p.Phe3960Tyr
XM_017022696.1:c.11879T>A XP_016878185.1:p.Phe3960Tyr
XM_017022697.1:c.5159T>A XP_016878186.1:p.Phe1720Tyr
XM_017022698.1:c.5159T>A XP_016878187.1:p.Phe1720Tyr
NM_004667.6:c.11993T>A MANE Select NP_004658.3:p.Phe3998Tyr