Canonical Allele Identifier: CA9779920
Community Standard Title: NM_018993.4(RIN2):c.741T>C (p.Asn247=)
Gene: RIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.19974766T>C , CM000682.2:g.19974766T>C GRCh38
NC_000020.10:g.19955410T>C , CM000682.1:g.19955410T>C GRCh37
NC_000020.9:g.19903410T>C NCBI36
NG_016310.1:g.90201T>C
NG_016310.2:g.90201T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018993.4:c.741T>C MANE Select NP_061866.1:p.Asn247=
ENST00000255006.12:c.741T>C MANE Select ENSP00000255006.7:p.Asn247=
NM_001242581.1:c.888T>C NP_001229510.1:p.Asn296=
NM_001242581.2:c.888T>C NP_001229510.1:p.Asn296=
NM_001378238.1:c.123T>C NP_001365167.1:p.Asn41=
NM_018993.3:c.741T>C NP_061866.1:p.Asn247=
ENST00000255006.10:c.888T>C ENSP00000255006.6:p.Asn296=
ENST00000440354.2:c.463+13955T>C ENSP00000391239.2:n.463+13955T>C
ENST00000484638.1:n.585T>C
ENST00000648440.1:c.741T>C ENSP00000498085.1:p.Asn247=
XM_005260731.2:c.741T>C XP_005260788.1:p.Asn247=
XM_005260732.2:c.606T>C XP_005260789.1:p.Asn202=
XM_005260733.2:c.123T>C XP_005260790.1:p.Asn41=
XM_006723574.2:c.741T>C XP_006723637.1:p.Asn247=
XM_006723574.4:c.741T>C XP_006723637.1:p.Asn247=
XM_006723575.2:c.741T>C XP_006723638.1:p.Asn247=
XM_006723575.4:c.741T>C XP_006723638.1:p.Asn247=
XM_006723577.2:c.741T>C XP_006723640.1:p.Asn247=
XM_011529255.1:c.837T>C XP_011527557.1:p.Asn279=
XM_011529255.2:c.942T>C XP_011527557.2:p.Asn314=
XM_011529256.1:c.897T>C XP_011527558.1:p.Asn299=
XM_011529257.1:c.741T>C XP_011527559.1:p.Asn247=
XM_011529257.2:c.741T>C XP_011527559.1:p.Asn247=
XM_011529258.1:c.741T>C XP_011527560.1:p.Asn247=
XM_011529258.2:c.741T>C XP_011527560.1:p.Asn247=
XM_011529259.1:c.582T>C XP_011527561.1:p.Asn194=
XM_011529259.2:c.582T>C XP_011527561.1:p.Asn194=
XM_011529260.1:c.741T>C XP_011527562.1:p.Asn247=
XM_017027887.1:c.888T>C XP_016883376.1:p.Asn296=
XM_017027888.1:c.888T>C XP_016883377.1:p.Asn296=
XM_017027889.1:c.831T>C XP_016883378.1:p.Asn277=
XM_017027890.1:c.741T>C XP_016883379.1:p.Asn247=
XM_017027891.1:c.606T>C XP_016883380.1:p.Asn202=
XM_017027892.1:c.582T>C XP_016883381.1:p.Asn194=
XM_017027893.1:c.942T>C XP_016883382.1:p.Asn314=
XM_024451911.1:c.741T>C XP_024307679.1:p.Asn247=
XM_024451912.1:c.741T>C XP_024307680.1:p.Asn247=
XM_024451913.1:c.741T>C XP_024307681.1:p.Asn247=