Canonical Allele Identifier: CA451210560

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857248-T-C
• MyVariant Identifiers: chr6:g.84566967T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857248T>C , CM000668.2:g.83857248T>C	GRCh38
NC_000006.11:g.84566967T>C , CM000668.1:g.84566967T>C	GRCh37
NC_000006.10:g.84623686T>C	NCBI36
NG_046722.1:g.8983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.246T>C MANE Select	ENSP00000358703.1:p.Phe82=
ENST00000369687.2:c.72T>C	ENSP00000358701.1:p.Phe24=
ENST00000369689.5:c.246T>C	ENSP00000358703.1:p.Phe82=
ENST00000635617.1:n.3659T>C
NM_001009994.2:c.246T>C	NP_001009994.1:p.Phe82=
NR_103525.1:n.303T>C
NR_103525.2:n.241T>C
NM_001009994.3:c.246T>C MANE Select	NP_001009994.1:p.Phe82=
NM_001400774.1:c.-28+3087T>C	NP_001387703.1:n.-28+3087T>C
NM_001400899.1:c.309T>C	NP_001387828.1:p.Phe103=
NM_001400900.1:c.*3083T>C	NP_001387829.1:n.*3083T>C
NR_174603.1:n.234+3087T>C
NR_174604.1:n.296+3087T>C
NR_174605.1:n.455+3189T>C
NR_174622.1:n.3321T>C