Canonical Allele Identifier: CA7440839

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28167817G>A , CM000677.2:g.28167817G>A	GRCh38
NC_000015.9:g.28412963G>A , CM000677.1:g.28412963G>A	GRCh37
NC_000015.8:g.26086558G>A	NCBI36
NG_016355.1:g.159333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.10424C>T MANE Select	ENSP00000261609.8:p.Ser3475Phe
ENST00000650509.1:c.2135C>T	ENSP00000496936.1:p.Ser712Phe
ENST00000261609.11:c.10424C>T	ENSP00000261609.7:p.Ser3475Phe
ENST00000569772.1:c.396C>T
NM_004667.5:c.10424C>T	NP_004658.3:p.Ser3475Phe
XM_005268276.3:c.10310C>T	XP_005268333.1:p.Ser3437Phe
XM_005268277.3:c.10310C>T	XP_005268334.1:p.Ser3437Phe
XM_006720726.2:c.10409C>T	XP_006720789.1:p.Ser3470Phe
XM_006720727.2:c.10166C>T	XP_006720790.1:p.Ser3389Phe
XM_011522131.1:c.9941C>T	XP_011520433.1:p.Ser3314Phe
XM_011522132.1:c.7940C>T	XP_011520434.1:p.Ser2647Phe
XM_011522133.1:c.7169C>T	XP_011520435.1:p.Ser2390Phe
XM_011522134.1:c.4541C>T	XP_011520436.1:p.Ser1514Phe
XM_005268276.5:c.10310C>T	XP_005268333.1:p.Ser3437Phe
XM_006720726.3:c.10409C>T	XP_006720789.1:p.Ser3470Phe
XM_006720727.3:c.10166C>T	XP_006720790.1:p.Ser3389Phe
XM_017022695.1:c.10310C>T	XP_016878184.1:p.Ser3437Phe
XM_017022696.1:c.10310C>T	XP_016878185.1:p.Ser3437Phe
XM_017022697.1:c.3590C>T	XP_016878186.1:p.Ser1197Phe
XM_017022698.1:c.3590C>T	XP_016878187.1:p.Ser1197Phe
NM_004667.6:c.10424C>T MANE Select	NP_004658.3:p.Ser3475Phe