Canonical Allele Identifier: CA9779662

Gene: RIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.19886762C>A , CM000682.2:g.19886762C>A	GRCh38
NC_000020.10:g.19867406C>A , CM000682.1:g.19867406C>A	GRCh37
NC_000020.9:g.19815406C>A	NCBI36
NG_016310.1:g.2197C>A
NG_016310.2:g.2197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255006.12:c.-36-2804C>A MANE Select	ENSP00000255006.7:n.-36-2804C>A
ENST00000432334.2:n.537-2804C>A
ENST00000648165.1:n.618-2804C>A
ENST00000648440.1:c.-55C>A	ENSP00000498085.1:n.-55C>A
ENST00000255006.10:c.93C>A	ENSP00000255006.6:p.Phe31Leu
NM_001242581.1:c.93C>A	NP_001229510.1:p.Phe31Leu
XM_005260731.2:c.-36-2804C>A	XP_005260788.1:n.-36-2804C>A
XM_006723574.2:c.-36-2804C>A	XP_006723637.1:n.-36-2804C>A
XM_006723575.2:c.-36-2804C>A	XP_006723638.1:n.-36-2804C>A
XM_011529256.1:c.68C>A	XP_011527558.1:p.Ser23Ter
XM_011529258.1:c.-37+1622C>A	XP_011527560.1:n.-37+1622C>A
XM_006723574.4:c.-36-2804C>A	XP_006723637.1:n.-36-2804C>A
XM_006723575.4:c.-36-2804C>A	XP_006723638.1:n.-36-2804C>A
XM_011529258.2:c.-37+1622C>A	XP_011527560.1:n.-37+1622C>A
XM_017027887.1:c.93C>A	XP_016883376.1:p.Phe31Leu
XM_017027888.1:c.93C>A	XP_016883377.1:p.Phe31Leu
XM_017027890.1:c.-55C>A	XP_016883379.1:n.-55C>A
XM_017027891.1:c.-359C>A	XP_016883380.1:n.-359C>A
XM_024451911.1:c.-36-2804C>A	XP_024307679.1:n.-36-2804C>A
XM_024451912.1:c.-36-2804C>A	XP_024307680.1:n.-36-2804C>A
XM_024451913.1:c.-36-2804C>A	XP_024307681.1:n.-36-2804C>A
NM_001242581.2:c.93C>A	NP_001229510.1:p.Phe31Leu
NM_001378238.1:c.-581-2804C>A	NP_001365167.1:n.-581-2804C>A
NM_018993.4:c.-36-2804C>A MANE Select	NP_061866.1:n.-36-2804C>A