Canonical Allele Identifier: CA1606462940
Community Standard Title: NM_000904.6(NQO2):c.139C= (p.Leu47=)
Gene: NQO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3010156C= , CM000668.2:g.3010156C= GRCh38
NC_000006.11:g.3010390C= , CM000668.1:g.3010390C= GRCh37
NC_000006.10:g.2955389C= NCBI36
NG_034013.1:g.15341C=

Transcript Alleles

HGVS Amino-acid Change
NM_000904.6:c.139C= MANE Select NP_000895.2:p.Leu47=
ENST00000380455.11:c.139C= MANE Select ENSP00000369822.4:p.Leu47=
NM_000904.4:c.139C= NP_000895.2:p.Leu47=
NM_001290221.1:c.139C= NP_001277150.1:p.Leu47=
NM_001290221.2:c.139C= NP_001277150.1:p.Leu47=
NM_001290222.1:c.139C= NP_001277151.1:p.Leu47=
NM_001290222.2:c.139C= NP_001277151.1:p.Leu47=
NM_001318940.1:c.139C= NP_001305869.1:p.Leu47=
NM_001318940.2:c.139C= NP_001305869.1:p.Leu47=
ENST00000338130.6:c.139C= ENSP00000337773.2:p.Leu47=
ENST00000338130.7:c.139C= ENSP00000337773.2:p.Leu47=
ENST00000380430.5:c.139C= ENSP00000369795.1:p.Leu47=
ENST00000380430.6:c.139C= ENSP00000369795.1:p.Leu47=
ENST00000380441.5:c.139C= ENSP00000369806.1:p.Leu47=
ENST00000380454.8:c.139C= ENSP00000369821.4:p.Leu47=
ENST00000380455.8:c.139C= ENSP00000369822.4:p.Leu47=
ENST00000380472.7:c.139C= ENSP00000369839.3:p.Leu47=
ENST00000397717.6:c.139C= ENSP00000380829.2:p.Leu47=
ENST00000397717.7:c.139C= ENSP00000380829.2:p.Leu47=
ENST00000426637.5:c.139C= ENSP00000406951.1:p.Leu47=
ENST00000606474.1:c.*151C= ENSP00000475864.1:n.*151C=
XM_005249148.2:c.139C= XP_005249205.1:p.Leu47=
XM_005249149.2:c.139C= XP_005249206.1:p.Leu47=
XM_005249150.2:c.139C= XP_005249207.1:p.Leu47=
XM_005249151.3:c.139C= XP_005249208.1:p.Leu47=
XM_006715100.1:c.139C= XP_006715163.1:p.Leu47=
XM_011514642.1:c.139C= XP_011512944.1:p.Leu47=
XM_011514643.1:c.139C= XP_011512945.1:p.Leu47=
XM_011514644.1:c.139C= XP_011512946.1:p.Leu47=
XM_011514645.1:c.139C= XP_011512947.1:p.Leu47=
XM_011514646.1:c.139C= XP_011512948.1:p.Leu47=