Canonical Allele Identifier: CA3908907

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs747947578
• ExAC: 6:84567019 C / G
• gnomAD v2: 6-84567019-C-G
• MyVariant Identifiers: chr6:g.84567019C>G (hg19) ; chr6:g.83857300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857300C>G , CM000668.2:g.83857300C>G	GRCh38
NC_000006.11:g.84567019C>G , CM000668.1:g.84567019C>G	GRCh37
NC_000006.10:g.84623738C>G	NCBI36
NG_046722.1:g.9035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.298C>G MANE Select	ENSP00000358703.1:p.Leu100Val
ENST00000369687.2:c.124C>G	ENSP00000358701.1:p.Leu42Val
ENST00000369689.5:c.298C>G	ENSP00000358703.1:p.Leu100Val
ENST00000635617.1:n.3711C>G
NM_001009994.2:c.298C>G	NP_001009994.1:p.Leu100Val
NR_103525.1:n.355C>G
NR_103525.2:n.293C>G
NM_001009994.3:c.298C>G MANE Select	NP_001009994.1:p.Leu100Val
NM_001400774.1:c.-28+3139C>G	NP_001387703.1:n.-28+3139C>G
NM_001400899.1:c.361C>G	NP_001387828.1:p.Leu121Val
NM_001400900.1:c.*3135C>G	NP_001387829.1:n.*3135C>G
NR_174603.1:n.234+3139C>G
NR_174604.1:n.296+3139C>G
NR_174605.1:n.455+3241C>G
NR_174622.1:n.3373C>G