Canonical Allele Identifier: CA9779847
Gene: RIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.19964996C>T , CM000682.2:g.19964996C>T GRCh38
NC_000020.10:g.19945640C>T , CM000682.1:g.19945640C>T GRCh37
NC_000020.9:g.19893640C>T NCBI36
NG_016310.1:g.80431C>T
NG_016310.2:g.80431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255006.12:c.508C>T MANE Select ENSP00000255006.7:p.Arg170Trp
ENST00000648440.1:c.508C>T ENSP00000498085.1:p.Arg170Trp
ENST00000255006.10:c.655C>T ENSP00000255006.6:p.Arg219Trp
ENST00000440354.2:c.463+4185C>T ENSP00000391239.2:n.463+4185C>T
ENST00000467569.5:n.751C>T
ENST00000484638.1:n.380+4185C>T
NM_001242581.1:c.655C>T NP_001229510.1:p.Arg219Trp
NM_018993.3:c.508C>T NP_061866.1:p.Arg170Trp
XM_005260731.2:c.508C>T XP_005260788.1:p.Arg170Trp
XM_005260732.2:c.373C>T XP_005260789.1:p.Arg125Trp
XM_005260733.2:c.-83+4185C>T XP_005260790.1:n.-83+4185C>T
XM_006723574.2:c.508C>T XP_006723637.1:p.Arg170Trp
XM_006723575.2:c.508C>T XP_006723638.1:p.Arg170Trp
XM_006723577.2:c.508C>T XP_006723640.1:p.Arg170Trp
XM_011529255.1:c.604C>T XP_011527557.1:p.Arg202Trp
XM_011529256.1:c.664C>T XP_011527558.1:p.Arg222Trp
XM_011529257.1:c.508C>T XP_011527559.1:p.Arg170Trp
XM_011529258.1:c.508C>T XP_011527560.1:p.Arg170Trp
XM_011529259.1:c.349C>T XP_011527561.1:p.Arg117Trp
XM_011529260.1:c.508C>T XP_011527562.1:p.Arg170Trp
XM_006723574.4:c.508C>T XP_006723637.1:p.Arg170Trp
XM_006723575.4:c.508C>T XP_006723638.1:p.Arg170Trp
XM_011529255.2:c.709C>T XP_011527557.2:p.Arg237Trp
XM_011529257.2:c.508C>T XP_011527559.1:p.Arg170Trp
XM_011529258.2:c.508C>T XP_011527560.1:p.Arg170Trp
XM_011529259.2:c.349C>T XP_011527561.1:p.Arg117Trp
XM_017027887.1:c.655C>T XP_016883376.1:p.Arg219Trp
XM_017027888.1:c.655C>T XP_016883377.1:p.Arg219Trp
XM_017027889.1:c.598C>T XP_016883378.1:p.Arg200Trp
XM_017027890.1:c.508C>T XP_016883379.1:p.Arg170Trp
XM_017027891.1:c.373C>T XP_016883380.1:p.Arg125Trp
XM_017027892.1:c.349C>T XP_016883381.1:p.Arg117Trp
XM_017027893.1:c.709C>T XP_016883382.1:p.Arg237Trp
XM_024451911.1:c.508C>T XP_024307679.1:p.Arg170Trp
XM_024451912.1:c.508C>T XP_024307680.1:p.Arg170Trp
XM_024451913.1:c.508C>T XP_024307681.1:p.Arg170Trp
NM_001242581.2:c.655C>T NP_001229510.1:p.Arg219Trp
NM_001378238.1:c.-83+4185C>T NP_001365167.1:n.-83+4185C>T
NM_018993.4:c.508C>T MANE Select NP_061866.1:p.Arg170Trp