Canonical Allele Identifier: CA9779733

Gene: RIN2

Linked Data

• ClinVar Variation Id: 517976
• ClinVar RCV Id: RCV000606176 ; RCV002531703
• dbSNP Id: rs370944227
• ExAC: 20:19915851 G / C
• gnomAD v2: 20-19915851-G-C
• gnomAD v3: 20-19935207-G-C
• gnomAD v4: 20-19935207-G-C
• MyVariant Identifiers: chr20:g.19915851G>C (hg19) ; chr20:g.19935207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.19935207G>C , CM000682.2:g.19935207G>C	GRCh38
NC_000020.10:g.19915851G>C , CM000682.1:g.19915851G>C	GRCh37
NC_000020.9:g.19863851G>C	NCBI36
NG_016310.1:g.50642G>C
NG_016310.2:g.50642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255006.12:c.158+8G>C MANE Select	ENSP00000255006.7:n.158+8G>C
ENST00000648440.1:c.158+8G>C	ENSP00000498085.1:n.158+8G>C
ENST00000255006.10:c.305+8G>C	ENSP00000255006.6:n.305+8G>C
ENST00000440354.2:c.158+8G>C	ENSP00000391239.2:n.158+8G>C
ENST00000459721.5:n.244+8G>C
ENST00000467569.5:n.232+8G>C
ENST00000484638.1:n.75+8G>C
ENST00000488077.1:n.350+8G>C
NM_001242581.1:c.305+8G>C	NP_001229510.1:n.305+8G>C
NM_018993.3:c.158+8G>C	NP_061866.1:n.158+8G>C
XM_005260731.2:c.158+8G>C	XP_005260788.1:n.158+8G>C
XM_005260732.2:c.-147+8G>C	XP_005260789.1:n.-147+8G>C
XM_005260733.2:c.-388+8G>C	XP_005260790.1:n.-388+8G>C
XM_006723574.2:c.158+8G>C	XP_006723637.1:n.158+8G>C
XM_006723575.2:c.158+8G>C	XP_006723638.1:n.158+8G>C
XM_006723577.2:c.158+8G>C	XP_006723640.1:n.158+8G>C
XM_011529255.1:c.254+8G>C	XP_011527557.1:n.254+8G>C
XM_011529256.1:c.314+8G>C	XP_011527558.1:n.314+8G>C
XM_011529257.1:c.158+8G>C	XP_011527559.1:n.158+8G>C
XM_011529258.1:c.158+8G>C	XP_011527560.1:n.158+8G>C
XM_011529259.1:c.-164+8G>C	XP_011527561.1:n.-164+8G>C
XM_011529260.1:c.158+8G>C	XP_011527562.1:n.158+8G>C
XM_006723574.4:c.158+8G>C	XP_006723637.1:n.158+8G>C
XM_006723575.4:c.158+8G>C	XP_006723638.1:n.158+8G>C
XM_011529255.2:c.359+8G>C	XP_011527557.2:n.359+8G>C
XM_011529257.2:c.158+8G>C	XP_011527559.1:n.158+8G>C
XM_011529258.2:c.158+8G>C	XP_011527560.1:n.158+8G>C
XM_011529259.2:c.-164+8G>C	XP_011527561.1:n.-164+8G>C
XM_017027887.1:c.305+8G>C	XP_016883376.1:n.305+8G>C
XM_017027888.1:c.305+8G>C	XP_016883377.1:n.305+8G>C
XM_017027889.1:c.248+8G>C	XP_016883378.1:n.248+8G>C
XM_017027890.1:c.158+8G>C	XP_016883379.1:n.158+8G>C
XM_017027891.1:c.-147+8G>C	XP_016883380.1:n.-147+8G>C
XM_017027892.1:c.-175+8G>C	XP_016883381.1:n.-175+8G>C
XM_017027893.1:c.359+8G>C	XP_016883382.1:n.359+8G>C
XM_024451911.1:c.158+8G>C	XP_024307679.1:n.158+8G>C
XM_024451912.1:c.158+8G>C	XP_024307680.1:n.158+8G>C
XM_024451913.1:c.158+8G>C	XP_024307681.1:n.158+8G>C
NM_001242581.2:c.305+8G>C	NP_001229510.1:n.305+8G>C
NM_001378238.1:c.-388+8G>C	NP_001365167.1:n.-388+8G>C
NM_018993.4:c.158+8G>C MANE Select	NP_061866.1:n.158+8G>C