Canonical Allele Identifier: CA2679552947

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857229-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857229C>A , CM000668.2:g.83857229C>A	GRCh38
NC_000006.11:g.84566948C>A , CM000668.1:g.84566948C>A	GRCh37
NC_000006.10:g.84623667C>A	NCBI36
NG_046722.1:g.8964C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-13C>A MANE Select	ENSP00000358703.1:n.240-13C>A
ENST00000369687.2:c.66-13C>A	ENSP00000358701.1:n.66-13C>A
ENST00000369689.5:c.240-13C>A	ENSP00000358703.1:n.240-13C>A
ENST00000635617.1:n.3640C>A
NM_001009994.2:c.240-13C>A	NP_001009994.1:n.240-13C>A
NR_103525.1:n.297-13C>A
NR_103525.2:n.235-13C>A
NM_001009994.3:c.240-13C>A MANE Select	NP_001009994.1:n.240-13C>A
NM_001400774.1:c.-28+3068C>A	NP_001387703.1:n.-28+3068C>A
NM_001400899.1:c.303-13C>A	NP_001387828.1:n.303-13C>A
NM_001400900.1:c.*3064C>A	NP_001387829.1:n.*3064C>A
NR_174603.1:n.234+3068C>A
NR_174604.1:n.296+3068C>A
NR_174605.1:n.455+3170C>A
NR_174622.1:n.3302C>A