Canonical Allele Identifier: CA358812

Gene: RIN2

Linked Data

• ClinVar Variation Id: 1296
• ClinVar RCV Id: RCV000001359
• dbSNP Id: rs759390822
• gnomAD v2: 20-19956393-AC-A
• gnomAD v4: 20-19975749-AC-A
• COSMIC: COSM1410651 ; COSM1410652
• MyVariant Identifiers: chr20:g.19956400del (hg19) ; chr20:g.19956394del (hg19) ; chr20:g.19975756del (hg38)
• PubMed: PMID:19631308 ; PMID:20954239 ; PMID:24449201

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.19975756del , CM000682.2:g.19975756del	GRCh38
NC_000020.10:g.19956400del , CM000682.1:g.19956400del	GRCh37
NC_000020.9:g.19904400del	NCBI36
NG_016310.1:g.91191del
NG_016310.2:g.91191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255006.12:c.1731del MANE Select	ENSP00000255006.7:p.Ile578SerfsTer4
ENST00000648440.1:c.1731del	ENSP00000498085.1:p.Ile578SerfsTer4
ENST00000255006.10:c.1878del	ENSP00000255006.6:p.Ile627SerfsTer4
ENST00000440354.2:c.464-14250del	ENSP00000391239.2:n.464-14250del
ENST00000484638.1:n.1575del
NM_001242581.1:c.1878del	NP_001229510.1:p.Ile627SerfsTer4
NM_018993.3:c.1731del	NP_061866.1:p.Ile578SerfsTer4
XM_005260731.2:c.1731del	XP_005260788.1:p.Ile578SerfsTer4
XM_005260732.2:c.1596del	XP_005260789.1:p.Ile533SerfsTer4
XM_005260733.2:c.1113del	XP_005260790.1:p.Ile372SerfsTer4
XM_006723574.2:c.1731del	XP_006723637.1:p.Ile578SerfsTer4
XM_006723575.2:c.1731del	XP_006723638.1:p.Ile578SerfsTer4
XM_006723577.2:c.1731del	XP_006723640.1:p.Ile578SerfsTer4
XM_011529255.1:c.1827del	XP_011527557.1:p.Ile610SerfsTer4
XM_011529256.1:c.1887del	XP_011527558.1:p.Ile630SerfsTer4
XM_011529257.1:c.1731del	XP_011527559.1:p.Ile578SerfsTer4
XM_011529258.1:c.1731del	XP_011527560.1:p.Ile578SerfsTer4
XM_011529259.1:c.1572del	XP_011527561.1:p.Ile525SerfsTer4
XM_011529260.1:c.1731del	XP_011527562.1:p.Ile578SerfsTer4
XM_006723574.4:c.1731del	XP_006723637.1:p.Ile578SerfsTer4
XM_006723575.4:c.1731del	XP_006723638.1:p.Ile578SerfsTer4
XM_011529255.2:c.1932del	XP_011527557.2:p.Ile645SerfsTer4
XM_011529257.2:c.1731del	XP_011527559.1:p.Ile578SerfsTer4
XM_011529258.2:c.1731del	XP_011527560.1:p.Ile578SerfsTer4
XM_011529259.2:c.1572del	XP_011527561.1:p.Ile525SerfsTer4
XM_017027887.1:c.1878del	XP_016883376.1:p.Ile627SerfsTer4
XM_017027888.1:c.1878del	XP_016883377.1:p.Ile627SerfsTer4
XM_017027889.1:c.1821del	XP_016883378.1:p.Ile608SerfsTer4
XM_017027890.1:c.1731del	XP_016883379.1:p.Ile578SerfsTer4
XM_017027891.1:c.1596del	XP_016883380.1:p.Ile533SerfsTer4
XM_017027892.1:c.1572del	XP_016883381.1:p.Ile525SerfsTer4
XM_017027893.1:c.1932del	XP_016883382.1:p.Ile645SerfsTer4
XM_024451911.1:c.1731del	XP_024307679.1:p.Ile578SerfsTer4
XM_024451912.1:c.1731del	XP_024307680.1:p.Ile578SerfsTer4
XM_024451913.1:c.1731del	XP_024307681.1:p.Ile578SerfsTer4
NM_001242581.2:c.1878del	NP_001229510.1:p.Ile627SerfsTer4
NM_001378238.1:c.1113del	NP_001365167.1:p.Ile372SerfsTer4
NM_018993.4:c.1731del MANE Select	NP_061866.1:p.Ile578SerfsTer4