Canonical Allele Identifier: CA2417367

Gene: NPRL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50347609C>T , CM000665.2:g.50347609C>T	GRCh38
NC_000003.11:g.50385040C>T , CM000665.1:g.50385040C>T	GRCh37
NC_000003.10:g.50360044C>T	NCBI36
NG_042828.1:g.3138G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006545.5:c.1140G>A MANE Select	NP_006536.3:p.Lys380=
ENST00000232501.8:c.1140G>A MANE Select	ENSP00000232501.3:p.Lys380=
NM_006545.4:c.1140G>A	NP_006536.3:p.Lys380=
ENST00000232501.7:c.1140G>A	ENSP00000232501.3:p.Lys380=
ENST00000429366.5:c.*1019G>A	ENSP00000412779.1:n.*1019G>A
ENST00000433381.5:c.*1089G>A	ENSP00000388019.1:n.*1089G>A
ENST00000451194.5:c.*1263G>A	ENSP00000388358.1:n.*1263G>A
ENST00000461020.5:n.2108G>A
ENST00000467294.1:n.2992G>A
ENST00000476064.5:n.1364G>A
ENST00000479512.5:n.1795G>A
ENST00000480296.5:n.2394G>A
ENST00000487632.5:n.1894G>A
ENST00000493465.5:n.347G>A
ENST00000667046.1:c.*717G>A	ENSP00000499627.1:n.*717G>A
ENST00000667631.1:n.1906G>A
ENST00000671487.1:n.1661G>A
XM_005264806.1:c.963G>A	XP_005264863.1:p.Lys321=
XM_005264808.3:c.780G>A	XP_005264865.1:p.Lys260=
XM_005264808.5:c.780G>A	XP_005264865.1:p.Lys260=
XM_011533287.1:c.1218G>A	XP_011531589.1:p.Lys406=
XM_011533288.1:c.1131G>A	XP_011531590.1:p.Lys377=
XM_011533288.3:c.1131G>A	XP_011531590.1:p.Lys377=
XM_017005555.1:c.780G>A	XP_016861044.1:p.Lys260=
XM_017005556.2:c.780G>A	XP_016861045.1:p.Lys260=
XR_001739981.1:n.1484G>A
XR_001739982.1:n.1313G>A
XR_001739983.1:n.1423G>A
XR_940364.1:n.1313G>A