Canonical Allele Identifier: CA365049661
Gene: RIPPLY2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83857246T>G , CM000668.2:g.83857246T>G GRCh38
NC_000006.11:g.84566965T>G , CM000668.1:g.84566965T>G GRCh37
NC_000006.10:g.84623684T>G NCBI36
NG_046722.1:g.8981T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369689.6:c.244T>G MANE Select ENSP00000358703.1:p.Phe82Val
ENST00000369687.2:c.70T>G ENSP00000358701.1:p.Phe24Val
ENST00000369689.5:c.244T>G ENSP00000358703.1:p.Phe82Val
ENST00000635617.1:n.3657T>G
NM_001009994.2:c.244T>G NP_001009994.1:p.Phe82Val
NR_103525.1:n.301T>G
NR_103525.2:n.239T>G
NM_001009994.3:c.244T>G MANE Select NP_001009994.1:p.Phe82Val
NM_001400774.1:c.-28+3085T>G NP_001387703.1:n.-28+3085T>G
NM_001400899.1:c.307T>G NP_001387828.1:p.Phe103Val
NM_001400900.1:c.*3081T>G NP_001387829.1:n.*3081T>G
NR_174603.1:n.234+3085T>G
NR_174604.1:n.296+3085T>G
NR_174605.1:n.455+3187T>G
NR_174622.1:n.3319T>G