Canonical Allele Identifier: CA14785172
Community Standard Title: NM_018993.4(RIN2):c.463+83A>T
Gene: RIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.19960894A>T , CM000682.2:g.19960894A>T GRCh38
NC_000020.10:g.19941538A>T , CM000682.1:g.19941538A>T GRCh37
NC_000020.9:g.19889538A>T NCBI36
NG_016310.1:g.76329A>T
NG_016310.2:g.76329A>T

Transcript Alleles

HGVS Amino-acid Change
NM_018993.4:c.463+83A>T MANE Select NP_061866.1:n.463+83A>T
ENST00000255006.12:c.463+83A>T MANE Select ENSP00000255006.7:n.463+83A>T
NM_001242581.1:c.610+83A>T NP_001229510.1:n.610+83A>T
NM_001242581.2:c.610+83A>T NP_001229510.1:n.610+83A>T
NM_001378238.1:c.-83+83A>T NP_001365167.1:n.-83+83A>T
NM_018993.3:c.463+83A>T NP_061866.1:n.463+83A>T
ENST00000255006.10:c.610+83A>T ENSP00000255006.6:n.610+83A>T
ENST00000440354.2:c.463+83A>T ENSP00000391239.2:n.463+83A>T
ENST00000467569.5:n.706+83A>T
ENST00000484638.1:n.380+83A>T
ENST00000648440.1:c.463+83A>T ENSP00000498085.1:n.463+83A>T
XM_005260731.2:c.463+83A>T XP_005260788.1:n.463+83A>T
XM_005260732.2:c.328+83A>T XP_005260789.1:n.328+83A>T
XM_005260733.2:c.-83+83A>T XP_005260790.1:n.-83+83A>T
XM_006723574.2:c.463+83A>T XP_006723637.1:n.463+83A>T
XM_006723574.4:c.463+83A>T XP_006723637.1:n.463+83A>T
XM_006723575.2:c.463+83A>T XP_006723638.1:n.463+83A>T
XM_006723575.4:c.463+83A>T XP_006723638.1:n.463+83A>T
XM_006723577.2:c.463+83A>T XP_006723640.1:n.463+83A>T
XM_011529255.1:c.559+83A>T XP_011527557.1:n.559+83A>T
XM_011529255.2:c.664+83A>T XP_011527557.2:n.664+83A>T
XM_011529256.1:c.619+83A>T XP_011527558.1:n.619+83A>T
XM_011529257.1:c.463+83A>T XP_011527559.1:n.463+83A>T
XM_011529257.2:c.463+83A>T XP_011527559.1:n.463+83A>T
XM_011529258.1:c.463+83A>T XP_011527560.1:n.463+83A>T
XM_011529258.2:c.463+83A>T XP_011527560.1:n.463+83A>T
XM_011529259.1:c.304+83A>T XP_011527561.1:n.304+83A>T
XM_011529259.2:c.304+83A>T XP_011527561.1:n.304+83A>T
XM_011529260.1:c.463+83A>T XP_011527562.1:n.463+83A>T
XM_017027887.1:c.610+83A>T XP_016883376.1:n.610+83A>T
XM_017027888.1:c.610+83A>T XP_016883377.1:n.610+83A>T
XM_017027889.1:c.553+83A>T XP_016883378.1:n.553+83A>T
XM_017027890.1:c.463+83A>T XP_016883379.1:n.463+83A>T
XM_017027891.1:c.328+83A>T XP_016883380.1:n.328+83A>T
XM_017027892.1:c.304+83A>T XP_016883381.1:n.304+83A>T
XM_017027893.1:c.664+83A>T XP_016883382.1:n.664+83A>T
XM_024451911.1:c.463+83A>T XP_024307679.1:n.463+83A>T
XM_024451912.1:c.463+83A>T XP_024307680.1:n.463+83A>T
XM_024451913.1:c.463+83A>T XP_024307681.1:n.463+83A>T