Canonical Allele Identifier: CA365049751

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857283-A-G
• MyVariant Identifiers: chr6:g.84567002A>G (hg19) ; chr6:g.83857283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857283A>G , CM000668.2:g.83857283A>G	GRCh38
NC_000006.11:g.84567002A>G , CM000668.1:g.84567002A>G	GRCh37
NC_000006.10:g.84623721A>G	NCBI36
NG_046722.1:g.9018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.281A>G MANE Select	ENSP00000358703.1:p.Gln94Arg
ENST00000369687.2:c.107A>G	ENSP00000358701.1:p.Gln36Arg
ENST00000369689.5:c.281A>G	ENSP00000358703.1:p.Gln94Arg
ENST00000635617.1:n.3694A>G
NM_001009994.2:c.281A>G	NP_001009994.1:p.Gln94Arg
NR_103525.1:n.338A>G
NR_103525.2:n.276A>G
NM_001009994.3:c.281A>G MANE Select	NP_001009994.1:p.Gln94Arg
NM_001400774.1:c.-28+3122A>G	NP_001387703.1:n.-28+3122A>G
NM_001400899.1:c.344A>G	NP_001387828.1:p.Gln115Arg
NM_001400900.1:c.*3118A>G	NP_001387829.1:n.*3118A>G
NR_174603.1:n.234+3122A>G
NR_174604.1:n.296+3122A>G
NR_174605.1:n.455+3224A>G
NR_174622.1:n.3356A>G