Canonical Allele Identifier: CA2679552904

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857165-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857165C>T , CM000668.2:g.83857165C>T	GRCh38
NC_000006.11:g.84566884C>T , CM000668.1:g.84566884C>T	GRCh37
NC_000006.10:g.84623603C>T	NCBI36
NG_046722.1:g.8900C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369689.6:c.240-77C>T MANE Select	ENSP00000358703.1:n.240-77C>T
ENST00000369687.2:c.66-77C>T	ENSP00000358701.1:n.66-77C>T
ENST00000369689.5:c.240-77C>T	ENSP00000358703.1:n.240-77C>T
ENST00000635617.1:n.3576C>T
NM_001009994.2:c.240-77C>T	NP_001009994.1:n.240-77C>T
NR_103525.1:n.297-77C>T
NR_103525.2:n.235-77C>T
NM_001009994.3:c.240-77C>T MANE Select	NP_001009994.1:n.240-77C>T
NM_001400774.1:c.-28+3004C>T	NP_001387703.1:n.-28+3004C>T
NM_001400899.1:c.303-77C>T	NP_001387828.1:n.303-77C>T
NM_001400900.1:c.*3000C>T	NP_001387829.1:n.*3000C>T
NR_174603.1:n.234+3004C>T
NR_174604.1:n.296+3004C>T
NR_174605.1:n.455+3106C>T
NR_174622.1:n.3238C>T