Canonical Allele Identifier: CA312899377
Gene: RIN2 HGNC NCBI

Linked Data

dbSNP Id: rs6046346
gnomAD v2: 20-19802188-C-T
gnomAD v3: 20-19821544-C-T
gnomAD v4: 20-19821544-C-T
MyVariant Identifiers: chr20:g.19802188C>T (hg19) chr20:g.19821544C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.19821544C>T , CM000682.2:g.19821544C>T GRCh38
NC_000020.10:g.19802188C>T , CM000682.1:g.19802188C>T GRCh37
NC_000020.9:g.19750188C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000255006.12:c.-37+21797C>T MANE Select ENSP00000255006.7:n.-37+21797C>T
ENST00000432334.2:n.536+6246C>T
ENST00000616029.2:n.358+21797C>T
ENST00000648165.1:n.403+21797C>T
XM_005260731.2:c.-37+21797C>T XP_005260788.1:n.-37+21797C>T
XM_006723574.2:c.-251+21797C>T XP_006723637.1:n.-251+21797C>T
XM_006723575.2:c.-37+21797C>T XP_006723638.1:n.-37+21797C>T
XM_011529256.1:c.-199+21797C>T XP_011527558.1:n.-199+21797C>T
XM_006723574.4:c.-251+21797C>T XP_006723637.1:n.-251+21797C>T
XM_006723575.4:c.-37+21797C>T XP_006723638.1:n.-37+21797C>T
XM_017027887.1:c.-248+21797C>T XP_016883376.1:n.-248+21797C>T
XM_017027888.1:c.-320+21797C>T XP_016883377.1:n.-320+21797C>T
XM_024451911.1:c.-251+21797C>T XP_024307679.1:n.-251+21797C>T
XM_024451912.1:c.-251+21797C>T XP_024307680.1:n.-251+21797C>T
XM_024451913.1:c.-37+6246C>T XP_024307681.1:n.-37+6246C>T
NM_001378238.1:c.-582+21797C>T NP_001365167.1:n.-582+21797C>T
NM_018993.4:c.-37+21797C>T MANE Select NP_061866.1:n.-37+21797C>T
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