Canonical Allele Identifier: CA365049693

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857259-C-A
• MyVariant Identifiers: chr6:g.84566978C>A (hg19) ; chr6:g.83857259C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857259C>A , CM000668.2:g.83857259C>A	GRCh38
NC_000006.11:g.84566978C>A , CM000668.1:g.84566978C>A	GRCh37
NC_000006.10:g.84623697C>A	NCBI36
NG_046722.1:g.8994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.257C>A MANE Select	ENSP00000358703.1:p.Ser86Ter
ENST00000369687.2:c.83C>A	ENSP00000358701.1:p.Ser28Ter
ENST00000369689.5:c.257C>A	ENSP00000358703.1:p.Ser86Ter
ENST00000635617.1:n.3670C>A
NM_001009994.2:c.257C>A	NP_001009994.1:p.Ser86Ter
NR_103525.1:n.314C>A
NR_103525.2:n.252C>A
NM_001009994.3:c.257C>A MANE Select	NP_001009994.1:p.Ser86Ter
NM_001400774.1:c.-28+3098C>A	NP_001387703.1:n.-28+3098C>A
NM_001400899.1:c.320C>A	NP_001387828.1:p.Ser107Ter
NM_001400900.1:c.*3094C>A	NP_001387829.1:n.*3094C>A
NR_174603.1:n.234+3098C>A
NR_174604.1:n.296+3098C>A
NR_174605.1:n.455+3200C>A
NR_174622.1:n.3332C>A