Canonical Allele Identifier: CA373371122

Gene: NPR2

Linked Data

• MyVariant Identifiers: chr9:g.35800769G>C (hg19) ; chr9:g.35800772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35800772G>C , CM000671.2:g.35800772G>C	GRCh38
NC_000009.11:g.35800769G>C , CM000671.1:g.35800769G>C	GRCh37
NC_000009.10:g.35790769G>C	NCBI36
NG_009249.1:g.13364G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448821.6:c.1282G>C	ENSP00000402902.2:p.Val428Leu
ENST00000685871.1:c.1282G>C	ENSP00000509964.1:p.Val428Leu
ENST00000686159.1:n.1321G>C
ENST00000686486.1:n.290G>C
ENST00000687302.1:n.1368G>C
ENST00000687357.1:c.1282G>C	ENSP00000509549.1:p.Val428Leu
ENST00000687625.1:n.437G>C
ENST00000687787.1:c.1282G>C	ENSP00000509440.1:p.Val428Leu
ENST00000688201.1:n.1314G>C
ENST00000688226.1:n.1214G>C
ENST00000688869.1:n.1588G>C
ENST00000689788.1:c.1076G>C	ENSP00000508973.1:n.1076G>C
ENST00000689898.1:c.1282G>C	ENSP00000509651.1:p.Val428Leu
ENST00000690070.1:c.1282G>C	ENSP00000509654.1:p.Val428Leu
ENST00000690267.1:c.1146G>C	ENSP00000510432.1:n.1146G>C
ENST00000690552.1:n.1143G>C
ENST00000691138.1:n.1143G>C
ENST00000691969.1:c.857G>C	ENSP00000510244.1:n.857G>C
ENST00000692232.1:n.2438G>C
ENST00000692233.1:c.1146G>C	ENSP00000509698.1:n.1146G>C
ENST00000692380.1:n.437G>C
ENST00000692447.1:n.2394G>C
ENST00000693094.1:c.1282G>C	ENSP00000510161.1:p.Val428Leu
ENST00000342694.7:c.1282G>C MANE Select	ENSP00000341083.2:p.Val428Leu
ENST00000342694.6:c.1282G>C	ENSP00000341083.2:p.Val428Leu
ENST00000464810.5:n.1282G>C
NM_003995.3:c.1282G>C	NP_003986.2:p.Val428Leu
XM_005251478.3:c.1282G>C	XP_005251535.1:p.Val428Leu
XM_005251479.3:c.295G>C	XP_005251536.1:p.Val99Leu
XM_006716778.2:c.1282G>C	XP_006716841.1:p.Val428Leu
XM_011517889.1:c.295G>C	XP_011516191.1:p.Val99Leu
XM_011517890.1:c.295G>C	XP_011516192.1:p.Val99Leu
XM_011517891.1:c.295G>C	XP_011516193.1:p.Val99Leu
XM_011517892.1:c.295G>C	XP_011516194.1:p.Val99Leu
XM_011517893.1:c.295G>C	XP_011516195.1:p.Val99Leu
XM_011517894.1:c.295G>C	XP_011516196.1:p.Val99Leu
XM_011517895.1:c.-127G>C	XP_011516197.1:n.-127G>C
XM_024447556.1:c.1282G>C	XP_024303324.1:p.Val428Leu
XM_024447557.1:c.1282G>C	XP_024303325.1:p.Val428Leu
XM_024447558.1:c.295G>C	XP_024303326.1:p.Val99Leu
XM_024447559.1:c.-127G>C	XP_024303327.1:n.-127G>C
XM_024447560.1:c.-127G>C	XP_024303328.1:n.-127G>C
XM_024447561.1:c.-127G>C	XP_024303329.1:n.-127G>C
NM_003995.4:c.1282G>C MANE Select	NP_003986.2:p.Val428Leu
NM_001378923.1:c.1282G>C	NP_001365852.1:p.Val428Leu