Canonical Allele Identifier: CA365049787

Gene: RIPPLY2

Linked Data

• MyVariant Identifiers: chr6:g.84567019C>A (hg19) ; chr6:g.83857300C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.298C>A MANE Select	ENSP00000358703.1:p.Leu100Met
ENST00000369687.2:c.124C>A	ENSP00000358701.1:p.Leu42Met
ENST00000369689.5:c.298C>A	ENSP00000358703.1:p.Leu100Met
ENST00000635617.1:n.3711C>A
NM_001009994.2:c.298C>A	NP_001009994.1:p.Leu100Met
NR_103525.1:n.355C>A
NR_103525.2:n.293C>A
NM_001009994.3:c.298C>A MANE Select	NP_001009994.1:p.Leu100Met
NM_001400774.1:c.-28+3139C>A	NP_001387703.1:n.-28+3139C>A
NM_001400899.1:c.361C>A	NP_001387828.1:p.Leu121Met
NM_001400900.1:c.*3135C>A	NP_001387829.1:n.*3135C>A
NR_174603.1:n.234+3139C>A
NR_174604.1:n.296+3139C>A
NR_174605.1:n.455+3241C>A
NR_174622.1:n.3373C>A