Canonical Allele Identifier: CA408482609

Gene: RIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.19886760T>C , CM000682.2:g.19886760T>C	GRCh38
NC_000020.10:g.19867404T>C , CM000682.1:g.19867404T>C	GRCh37
NC_000020.9:g.19815404T>C	NCBI36
NG_016310.1:g.2195T>C
NG_016310.2:g.2195T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255006.12:c.-36-2806T>C MANE Select	ENSP00000255006.7:n.-36-2806T>C
ENST00000432334.2:n.537-2806T>C
ENST00000648165.1:n.618-2806T>C
ENST00000648440.1:c.-57T>C	ENSP00000498085.1:n.-57T>C
ENST00000255006.10:c.91T>C	ENSP00000255006.6:p.Phe31Leu
NM_001242581.1:c.91T>C	NP_001229510.1:p.Phe31Leu
XM_005260731.2:c.-36-2806T>C	XP_005260788.1:n.-36-2806T>C
XM_006723574.2:c.-36-2806T>C	XP_006723637.1:n.-36-2806T>C
XM_006723575.2:c.-36-2806T>C	XP_006723638.1:n.-36-2806T>C
XM_011529256.1:c.66T>C	XP_011527558.1:p.Ile22=
XM_011529258.1:c.-37+1620T>C	XP_011527560.1:n.-37+1620T>C
XM_006723574.4:c.-36-2806T>C	XP_006723637.1:n.-36-2806T>C
XM_006723575.4:c.-36-2806T>C	XP_006723638.1:n.-36-2806T>C
XM_011529258.2:c.-37+1620T>C	XP_011527560.1:n.-37+1620T>C
XM_017027887.1:c.91T>C	XP_016883376.1:p.Phe31Leu
XM_017027888.1:c.91T>C	XP_016883377.1:p.Phe31Leu
XM_017027890.1:c.-57T>C	XP_016883379.1:n.-57T>C
XM_017027891.1:c.-361T>C	XP_016883380.1:n.-361T>C
XM_024451911.1:c.-36-2806T>C	XP_024307679.1:n.-36-2806T>C
XM_024451912.1:c.-36-2806T>C	XP_024307680.1:n.-36-2806T>C
XM_024451913.1:c.-36-2806T>C	XP_024307681.1:n.-36-2806T>C
NM_001242581.2:c.91T>C	NP_001229510.1:p.Phe31Leu
NM_001378238.1:c.-581-2806T>C	NP_001365167.1:n.-581-2806T>C
NM_018993.4:c.-36-2806T>C MANE Select	NP_061866.1:n.-36-2806T>C