Canonical Allele Identifier: CA2689904831

Gene: NPR2

Linked Data

• gnomAD v4: 9-35800734-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35800735del , CM000671.2:g.35800735del	GRCh38
NC_000009.11:g.35800732del , CM000671.1:g.35800732del	GRCh37
NC_000009.10:g.35790732del	NCBI36
NG_009249.1:g.13327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448821.6:c.1245del	ENSP00000402902.2:p.Lys416SerfsTer13
ENST00000685871.1:c.1245del	ENSP00000509964.1:p.Lys416SerfsTer13
ENST00000686159.1:n.1284del
ENST00000686486.1:n.253del
ENST00000687302.1:n.1331del
ENST00000687357.1:c.1245del	ENSP00000509549.1:p.Lys416SerfsTer13
ENST00000687625.1:n.400del
ENST00000687787.1:c.1245del	ENSP00000509440.1:p.Lys416SerfsTer13
ENST00000688201.1:n.1277del
ENST00000688226.1:n.1177del
ENST00000688869.1:n.1551del
ENST00000689788.1:c.1039del	ENSP00000508973.1:n.1039del
ENST00000689898.1:c.1245del	ENSP00000509651.1:p.Lys416SerfsTer13
ENST00000690070.1:c.1245del	ENSP00000509654.1:p.Lys416SerfsTer13
ENST00000690267.1:c.1109del	ENSP00000510432.1:n.1109del
ENST00000690552.1:n.1106del
ENST00000691138.1:n.1106del
ENST00000691969.1:c.820del	ENSP00000510244.1:n.820del
ENST00000692232.1:n.2401del
ENST00000692233.1:c.1109del	ENSP00000509698.1:n.1109del
ENST00000692380.1:n.400del
ENST00000692447.1:n.2357del
ENST00000693094.1:c.1245del	ENSP00000510161.1:p.Lys416SerfsTer13
ENST00000342694.7:c.1245del MANE Select	ENSP00000341083.2:p.Lys416SerfsTer13
ENST00000342694.6:c.1245del	ENSP00000341083.2:p.Lys416SerfsTer13
ENST00000464810.5:n.1245del
NM_003995.3:c.1245del	NP_003986.2:p.Lys416SerfsTer13
XM_005251478.3:c.1245del	XP_005251535.1:p.Lys416SerfsTer13
XM_005251479.3:c.258del	XP_005251536.1:p.Lys87SerfsTer13
XM_006716778.2:c.1245del	XP_006716841.1:p.Lys416SerfsTer13
XM_011517889.1:c.258del	XP_011516191.1:p.Lys87SerfsTer13
XM_011517890.1:c.258del	XP_011516192.1:p.Lys87SerfsTer13
XM_011517891.1:c.258del	XP_011516193.1:p.Lys87SerfsTer13
XM_011517892.1:c.258del	XP_011516194.1:p.Lys87SerfsTer13
XM_011517893.1:c.258del	XP_011516195.1:p.Lys87SerfsTer13
XM_011517894.1:c.258del	XP_011516196.1:p.Lys87SerfsTer13
XM_024447556.1:c.1245del	XP_024303324.1:p.Lys416SerfsTer13
XM_024447557.1:c.1245del	XP_024303325.1:p.Lys416SerfsTer13
XM_024447558.1:c.258del	XP_024303326.1:p.Lys87SerfsTer13
XM_024447560.1:c.-164del	XP_024303328.1:n.-164del
XM_024447561.1:c.-164del	XP_024303329.1:n.-164del
NM_003995.4:c.1245del MANE Select	NP_003986.2:p.Lys416SerfsTer13
NM_001378923.1:c.1245del	NP_001365852.1:p.Lys416SerfsTer13