Canonical Allele Identifier: CA351422
Gene: RIPPLY2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.83854160A>T
GRCh37 chr6:g.84563879A>T
gnomAD v2:
6:84563879 A / T
gnomAD v3:
6:83854160 A / T
gnomAD v4:
chr6-83854160-A-T
Joint Max Group AF 0.00020116 (NFE)
Genomes Max Group AF 0.00030402 (NFE)
Exomes Max Group AF 0.00018912 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83854160A>T , CM000668.2:g.83854160A>T GRCh38
NC_000006.11:g.84563879A>T , CM000668.1:g.84563879A>T GRCh37
NC_000006.10:g.84620598A>T NCBI36
NG_046722.1:g.5895A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369689.6:c.238A>T MANE Select ENSP00000358703.1:p.Arg80Ter
ENST00000369687.2:c.64A>T ENSP00000358701.1:p.Arg22Ter
ENST00000369689.5:c.238A>T ENSP00000358703.1:p.Arg80Ter
ENST00000635617.1:n.571A>T
NM_001009994.2:c.238A>T NP_001009994.1:p.Arg80Ter
NR_103525.1:n.295A>T
NR_103525.2:n.233A>T
NM_001009994.3:c.238A>T MANE Select NP_001009994.1:p.Arg80Ter
NM_001400774.1:c.-29A>T NP_001387703.1:n.-29A>T
NM_001400899.1:c.301A>T NP_001387828.1:p.Arg101Ter
NM_001400900.1:c.238A>T NP_001387829.1:p.Arg80Trp
NR_174603.1:n.233A>T
NR_174604.1:n.295A>T
NR_174605.1:n.455+101A>T
NR_174622.1:n.233A>T
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