Canonical Allele Identifier: CA5052193
Community Standard Title: NM_003995.4(NPR2):c.3078+16G>T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35809263G>T , CM000671.2:g.35809263G>T GRCh38
NC_000009.11:g.35809260G>T , CM000671.1:g.35809260G>T GRCh37
NC_000009.10:g.35799260G>T NCBI36
NG_009249.1:g.21855G>T
NG_047141.1:g.8010C>A

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.3078+16G>T (NPR2) MANE Select NP_003986.2:n.3078+16G>T
ENST00000342694.7:c.3078+16G>T (NPR2) MANE Select ENSP00000341083.2:n.3078+16G>T
NM_001366760.2:c.1201-957C>A (SPAG8) NP_001353689.1:n.1201-957C>A
NM_001378923.1:c.3087+16G>T (NPR2) NP_001365852.1:n.3087+16G>T
NM_003995.3:c.3078+16G>T (NPR2) NP_003986.2:n.3078+16G>T
NM_172312.1:c.1372+141C>A (SPAG8) NP_758516.1:n.1372+141C>A
NM_172312.2:c.1372+141C>A (SPAG8) NP_758516.1:n.1372+141C>A
NR_159431.2:n.1303-957C>A (SPAG8)
ENST00000340291.6:c.1372+141C>A (SPAG8) ENSP00000340982.2:n.1372+141C>A
ENST00000342694.6:c.3078+16G>T (NPR2) ENSP00000341083.2:n.3078+16G>T
ENST00000421267.6:c.1118+16G>T (NPR2)
ENST00000447210.5:c.483-389G>T (NPR2) ENSP00000393029.1:n.483-389G>T
ENST00000448821.5:c.390+16G>T (NPR2)
ENST00000448821.6:c.2903+16G>T (NPR2) ENSP00000402902.2:n.2903+16G>T
ENST00000460836.5:n.417-957C>A (SPAG8)
ENST00000463889.5:n.467-957C>A (SPAG8)
ENST00000464810.5:n.3149+16G>T (NPR2)
ENST00000469249.1:n.545+16G>T (NPR2)
ENST00000475644.5:c.*825+141C>A (SPAG8) ENSP00000418530.1:n.*825+141C>A
ENST00000489063.1:n.474+141C>A (SPAG8)
ENST00000685871.1:c.3006+16G>T (NPR2) ENSP00000509964.1:n.3006+16G>T
ENST00000686159.1:n.3117+16G>T (NPR2)
ENST00000686486.1:n.2319+16G>T (NPR2)
ENST00000687302.1:n.3263+16G>T (NPR2)
ENST00000687357.1:c.2931+16G>T (NPR2) ENSP00000509549.1:n.2931+16G>T
ENST00000687625.1:n.2233+16G>T (NPR2)
ENST00000687787.1:c.3237+16G>T (NPR2) ENSP00000509440.1:n.3237+16G>T
ENST00000688201.1:n.3035+16G>T (NPR2)
ENST00000688226.1:n.3010+16G>T (NPR2)
ENST00000688869.1:n.3384+16G>T (NPR2)
ENST00000689788.1:c.2872+16G>T (NPR2) ENSP00000508973.1:n.2872+16G>T
ENST00000689898.1:c.2935+16G>T (NPR2) ENSP00000509651.1:n.2935+16G>T
ENST00000690070.1:c.3162+16G>T (NPR2) ENSP00000509654.1:n.3162+16G>T
ENST00000690267.1:c.2867+16G>T (NPR2) ENSP00000510432.1:n.2867+16G>T
ENST00000690552.1:n.3423+16G>T (NPR2)
ENST00000691138.1:n.3422+16G>T (NPR2)
ENST00000691969.1:c.2578+16G>T (NPR2) ENSP00000510244.1:n.2578+16G>T
ENST00000692232.1:n.4393+16G>T (NPR2)
ENST00000692233.1:c.2942+16G>T (NPR2) ENSP00000509698.1:n.2942+16G>T
ENST00000692380.1:n.2233+16G>T (NPR2)
ENST00000692447.1:n.4194+16G>T (NPR2)
ENST00000693094.1:c.3168+16G>T (NPR2) ENSP00000510161.1:n.3168+16G>T
XM_005251438.1:c.1201-957C>A (SPAG8) XP_005251495.1:n.1201-957C>A
XM_005251478.3:c.3087+16G>T (NPR2) XP_005251535.1:n.3087+16G>T
XM_005251479.3:c.2100+16G>T (NPR2) XP_005251536.1:n.2100+16G>T
XM_006716778.2:c.3015+16G>T (NPR2) XP_006716841.1:n.3015+16G>T
XM_011517889.1:c.2100+16G>T (NPR2) XP_011516191.1:n.2100+16G>T
XM_011517890.1:c.2100+16G>T (NPR2) XP_011516192.1:n.2100+16G>T
XM_011517891.1:c.2100+16G>T (NPR2) XP_011516193.1:n.2100+16G>T
XM_011517892.1:c.2100+16G>T (NPR2) XP_011516194.1:n.2100+16G>T
XM_011517893.1:c.2100+16G>T (NPR2) XP_011516195.1:n.2100+16G>T
XM_011517894.1:c.2100+16G>T (NPR2) XP_011516196.1:n.2100+16G>T
XM_011517895.1:c.1683+16G>T (NPR2) XP_011516197.1:n.1683+16G>T
XM_024447512.1:c.1210-957C>A (SPAG8) XP_024303280.1:n.1210-957C>A
XM_024447513.1:c.1201-957C>A (SPAG8) XP_024303281.1:n.1201-957C>A
XM_024447556.1:c.3246+16G>T (NPR2) XP_024303324.1:n.3246+16G>T
XM_024447557.1:c.3237+16G>T (NPR2) XP_024303325.1:n.3237+16G>T
XM_024447558.1:c.2259+16G>T (NPR2) XP_024303326.1:n.2259+16G>T
XM_024447559.1:c.1842+16G>T (NPR2) XP_024303327.1:n.1842+16G>T
XM_024447560.1:c.1833+16G>T (NPR2) XP_024303328.1:n.1833+16G>T
XM_024447561.1:c.1674+16G>T (NPR2) XP_024303329.1:n.1674+16G>T
XR_002956772.1:n.1313-957C>A (SPAG8)