Canonical Allele Identifier: CA2679552944

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857225-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857225T>C , CM000668.2:g.83857225T>C	GRCh38
NC_000006.11:g.84566944T>C , CM000668.1:g.84566944T>C	GRCh37
NC_000006.10:g.84623663T>C	NCBI36
NG_046722.1:g.8960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-17T>C MANE Select	ENSP00000358703.1:n.240-17T>C
ENST00000369687.2:c.66-17T>C	ENSP00000358701.1:n.66-17T>C
ENST00000369689.5:c.240-17T>C	ENSP00000358703.1:n.240-17T>C
ENST00000635617.1:n.3636T>C
NM_001009994.2:c.240-17T>C	NP_001009994.1:n.240-17T>C
NR_103525.1:n.297-17T>C
NR_103525.2:n.235-17T>C
NM_001009994.3:c.240-17T>C MANE Select	NP_001009994.1:n.240-17T>C
NM_001400774.1:c.-28+3064T>C	NP_001387703.1:n.-28+3064T>C
NM_001400899.1:c.303-17T>C	NP_001387828.1:n.303-17T>C
NM_001400900.1:c.*3060T>C	NP_001387829.1:n.*3060T>C
NR_174603.1:n.234+3064T>C
NR_174604.1:n.296+3064T>C
NR_174605.1:n.455+3166T>C
NR_174622.1:n.3298T>C