Canonical Allele Identifier: CA129976

Gene: RIN2

Linked Data

• ClinVar Variation Id: 36923
• ClinVar RCV Id: RCV000030606
• dbSNP Id: rs587776915
• MyVariant Identifiers: chr20:g.19970801_19970802del (hg19) ; chr20:g.19990157_19990158del (hg38)
• PubMed: PMID:20424861 ; PMID:24449201

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.19990157_19990158del , CM000682.2:g.19990157_19990158del	GRCh38
NC_000020.10:g.19970801_19970802del , CM000682.1:g.19970801_19970802del	GRCh37
NC_000020.9:g.19918801_19918802del	NCBI36
NG_016310.1:g.105592_105593del
NG_016310.2:g.105592_105593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255006.12:c.1914_1915del MANE Select	ENSP00000255006.7:p.Glu638AspfsTer9
ENST00000648440.1:c.1914_1915del	ENSP00000498085.1:p.Glu638AspfsTer9
ENST00000255006.10:c.2061_2062del	ENSP00000255006.6:p.Glu687AspfsTer9
ENST00000440354.2:c.615_616del	ENSP00000391239.2:p.Glu205AspfsTer9
ENST00000484638.1:n.1758_1759del
NM_001242581.1:c.2061_2062del	NP_001229510.1:p.Glu687AspfsTer9
NM_018993.3:c.1914_1915del	NP_061866.1:p.Glu638AspfsTer9
XM_005260731.2:c.1914_1915del	XP_005260788.1:p.Glu638AspfsTer9
XM_005260732.2:c.1779_1780del	XP_005260789.1:p.Glu593AspfsTer9
XM_005260733.2:c.1296_1297del	XP_005260790.1:p.Glu432AspfsTer9
XM_006723574.2:c.1914_1915del	XP_006723637.1:p.Glu638AspfsTer9
XM_006723575.2:c.1914_1915del	XP_006723638.1:p.Glu638AspfsTer9
XM_006723577.2:c.1914_1915del	XP_006723640.1:p.Glu638AspfsTer9
XM_011529255.1:c.2010_2011del	XP_011527557.1:p.Glu670AspfsTer9
XM_011529256.1:c.2070_2071del	XP_011527558.1:p.Glu690AspfsTer9
XM_011529257.1:c.1914_1915del	XP_011527559.1:p.Glu638AspfsTer9
XM_011529258.1:c.1914_1915del	XP_011527560.1:p.Glu638AspfsTer9
XM_011529259.1:c.1755_1756del	XP_011527561.1:p.Glu585AspfsTer9
XM_006723574.4:c.1914_1915del	XP_006723637.1:p.Glu638AspfsTer9
XM_006723575.4:c.1914_1915del	XP_006723638.1:p.Glu638AspfsTer9
XM_011529255.2:c.2115_2116del	XP_011527557.2:p.Glu705AspfsTer9
XM_011529257.2:c.1914_1915del	XP_011527559.1:p.Glu638AspfsTer9
XM_011529258.2:c.1914_1915del	XP_011527560.1:p.Glu638AspfsTer9
XM_011529259.2:c.1755_1756del	XP_011527561.1:p.Glu585AspfsTer9
XM_017027887.1:c.2061_2062del	XP_016883376.1:p.Glu687AspfsTer9
XM_017027888.1:c.2061_2062del	XP_016883377.1:p.Glu687AspfsTer9
XM_017027889.1:c.2004_2005del	XP_016883378.1:p.Glu668AspfsTer9
XM_017027890.1:c.1914_1915del	XP_016883379.1:p.Glu638AspfsTer9
XM_017027891.1:c.1779_1780del	XP_016883380.1:p.Glu593AspfsTer9
XM_017027892.1:c.1755_1756del	XP_016883381.1:p.Glu585AspfsTer9
XM_024451911.1:c.1914_1915del	XP_024307679.1:p.Glu638AspfsTer9
XM_024451912.1:c.1914_1915del	XP_024307680.1:p.Glu638AspfsTer9
XM_024451913.1:c.1914_1915del	XP_024307681.1:p.Glu638AspfsTer9
NM_001242581.2:c.2061_2062del	NP_001229510.1:p.Glu687AspfsTer9
NM_001378238.1:c.1296_1297del	NP_001365167.1:p.Glu432AspfsTer9
NM_018993.4:c.1914_1915del MANE Select	NP_061866.1:p.Glu638AspfsTer9