Canonical Allele Identifier: CA365049780

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857295-C-A
• MyVariant Identifiers: chr6:g.84567014C>A (hg19) ; chr6:g.83857295C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857295C>A , CM000668.2:g.83857295C>A	GRCh38
NC_000006.11:g.84567014C>A , CM000668.1:g.84567014C>A	GRCh37
NC_000006.10:g.84623733C>A	NCBI36
NG_046722.1:g.9030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.293C>A MANE Select	ENSP00000358703.1:p.Ala98Asp
ENST00000369687.2:c.119C>A	ENSP00000358701.1:p.Ala40Asp
ENST00000369689.5:c.293C>A	ENSP00000358703.1:p.Ala98Asp
ENST00000635617.1:n.3706C>A
NM_001009994.2:c.293C>A	NP_001009994.1:p.Ala98Asp
NR_103525.1:n.350C>A
NR_103525.2:n.288C>A
NM_001009994.3:c.293C>A MANE Select	NP_001009994.1:p.Ala98Asp
NM_001400774.1:c.-28+3134C>A	NP_001387703.1:n.-28+3134C>A
NM_001400899.1:c.356C>A	NP_001387828.1:p.Ala119Asp
NM_001400900.1:c.*3130C>A	NP_001387829.1:n.*3130C>A
NR_174603.1:n.234+3134C>A
NR_174604.1:n.296+3134C>A
NR_174605.1:n.455+3236C>A
NR_174622.1:n.3368C>A