Canonical Allele Identifier: CA9779932

Gene: RIN2

Linked Data

• ClinVar Variation Id: 421543
• ClinVar RCV Id: RCV000481209 ; RCV002526600 ; RCV003129869 ; RCV003942593
• dbSNP Id: rs201551000
• ExAC: 20:19955466 A / T
• gnomAD v2: 20-19955466-A-T
• gnomAD v3: 20-19974822-A-T
• gnomAD v4: 20-19974822-A-T
• MyVariant Identifiers: chr20:g.19955466A>T (hg19) ; chr20:g.19974822A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.19974822A>T , CM000682.2:g.19974822A>T	GRCh38
NC_000020.10:g.19955466A>T , CM000682.1:g.19955466A>T	GRCh37
NC_000020.9:g.19903466A>T	NCBI36
NG_016310.1:g.90257A>T
NG_016310.2:g.90257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255006.12:c.797A>T MANE Select	ENSP00000255006.7:p.Asn266Ile
ENST00000648440.1:c.797A>T	ENSP00000498085.1:p.Asn266Ile
ENST00000255006.10:c.944A>T	ENSP00000255006.6:p.Asn315Ile
ENST00000440354.2:c.463+14011A>T	ENSP00000391239.2:n.463+14011A>T
ENST00000484638.1:n.641A>T
NM_001242581.1:c.944A>T	NP_001229510.1:p.Asn315Ile
NM_018993.3:c.797A>T	NP_061866.1:p.Asn266Ile
XM_005260731.2:c.797A>T	XP_005260788.1:p.Asn266Ile
XM_005260732.2:c.662A>T	XP_005260789.1:p.Asn221Ile
XM_005260733.2:c.179A>T	XP_005260790.1:p.Asn60Ile
XM_006723574.2:c.797A>T	XP_006723637.1:p.Asn266Ile
XM_006723575.2:c.797A>T	XP_006723638.1:p.Asn266Ile
XM_006723577.2:c.797A>T	XP_006723640.1:p.Asn266Ile
XM_011529255.1:c.893A>T	XP_011527557.1:p.Asn298Ile
XM_011529256.1:c.953A>T	XP_011527558.1:p.Asn318Ile
XM_011529257.1:c.797A>T	XP_011527559.1:p.Asn266Ile
XM_011529258.1:c.797A>T	XP_011527560.1:p.Asn266Ile
XM_011529259.1:c.638A>T	XP_011527561.1:p.Asn213Ile
XM_011529260.1:c.797A>T	XP_011527562.1:p.Asn266Ile
XM_006723574.4:c.797A>T	XP_006723637.1:p.Asn266Ile
XM_006723575.4:c.797A>T	XP_006723638.1:p.Asn266Ile
XM_011529255.2:c.998A>T	XP_011527557.2:p.Asn333Ile
XM_011529257.2:c.797A>T	XP_011527559.1:p.Asn266Ile
XM_011529258.2:c.797A>T	XP_011527560.1:p.Asn266Ile
XM_011529259.2:c.638A>T	XP_011527561.1:p.Asn213Ile
XM_017027887.1:c.944A>T	XP_016883376.1:p.Asn315Ile
XM_017027888.1:c.944A>T	XP_016883377.1:p.Asn315Ile
XM_017027889.1:c.887A>T	XP_016883378.1:p.Asn296Ile
XM_017027890.1:c.797A>T	XP_016883379.1:p.Asn266Ile
XM_017027891.1:c.662A>T	XP_016883380.1:p.Asn221Ile
XM_017027892.1:c.638A>T	XP_016883381.1:p.Asn213Ile
XM_017027893.1:c.998A>T	XP_016883382.1:p.Asn333Ile
XM_024451911.1:c.797A>T	XP_024307679.1:p.Asn266Ile
XM_024451912.1:c.797A>T	XP_024307680.1:p.Asn266Ile
XM_024451913.1:c.797A>T	XP_024307681.1:p.Asn266Ile
NM_001242581.2:c.944A>T	NP_001229510.1:p.Asn315Ile
NM_001378238.1:c.179A>T	NP_001365167.1:p.Asn60Ile
NM_018993.4:c.797A>T MANE Select	NP_061866.1:p.Asn266Ile