Canonical Allele Identifier: CA365049754
Gene: RIPPLY2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83857285G>A , CM000668.2:g.83857285G>A GRCh38
NC_000006.11:g.84567004G>A , CM000668.1:g.84567004G>A GRCh37
NC_000006.10:g.84623723G>A NCBI36
NG_046722.1:g.9020G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369689.6:c.283G>A MANE Select ENSP00000358703.1:p.Glu95Lys
ENST00000369687.2:c.109G>A ENSP00000358701.1:p.Glu37Lys
ENST00000369689.5:c.283G>A ENSP00000358703.1:p.Glu95Lys
ENST00000635617.1:n.3696G>A
NM_001009994.2:c.283G>A NP_001009994.1:p.Glu95Lys
NR_103525.1:n.340G>A
NR_103525.2:n.278G>A
NM_001009994.3:c.283G>A MANE Select NP_001009994.1:p.Glu95Lys
NM_001400774.1:c.-28+3124G>A NP_001387703.1:n.-28+3124G>A
NM_001400899.1:c.346G>A NP_001387828.1:p.Glu116Lys
NM_001400900.1:c.*3120G>A NP_001387829.1:n.*3120G>A
NR_174603.1:n.234+3124G>A
NR_174604.1:n.296+3124G>A
NR_174605.1:n.455+3226G>A
NR_174622.1:n.3358G>A