Canonical Allele Identifier: CA365049752

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857284-A-C
• MyVariant Identifiers: chr6:g.84567003A>C (hg19) ; chr6:g.83857284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857284A>C , CM000668.2:g.83857284A>C	GRCh38
NC_000006.11:g.84567003A>C , CM000668.1:g.84567003A>C	GRCh37
NC_000006.10:g.84623722A>C	NCBI36
NG_046722.1:g.9019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.282A>C MANE Select	ENSP00000358703.1:p.Gln94His
ENST00000369687.2:c.108A>C	ENSP00000358701.1:p.Gln36His
ENST00000369689.5:c.282A>C	ENSP00000358703.1:p.Gln94His
ENST00000635617.1:n.3695A>C
NM_001009994.2:c.282A>C	NP_001009994.1:p.Gln94His
NR_103525.1:n.339A>C
NR_103525.2:n.277A>C
NM_001009994.3:c.282A>C MANE Select	NP_001009994.1:p.Gln94His
NM_001400774.1:c.-28+3123A>C	NP_001387703.1:n.-28+3123A>C
NM_001400899.1:c.345A>C	NP_001387828.1:p.Gln115His
NM_001400900.1:c.*3119A>C	NP_001387829.1:n.*3119A>C
NR_174603.1:n.234+3123A>C
NR_174604.1:n.296+3123A>C
NR_174605.1:n.455+3225A>C
NR_174622.1:n.3357A>C