Canonical Allele Identifier: CA2679552935

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857209-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857209G>C , CM000668.2:g.83857209G>C	GRCh38
NC_000006.11:g.84566928G>C , CM000668.1:g.84566928G>C	GRCh37
NC_000006.10:g.84623647G>C	NCBI36
NG_046722.1:g.8944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-33G>C MANE Select	ENSP00000358703.1:n.240-33G>C
ENST00000369687.2:c.66-33G>C	ENSP00000358701.1:n.66-33G>C
ENST00000369689.5:c.240-33G>C	ENSP00000358703.1:n.240-33G>C
ENST00000635617.1:n.3620G>C
NM_001009994.2:c.240-33G>C	NP_001009994.1:n.240-33G>C
NR_103525.1:n.297-33G>C
NR_103525.2:n.235-33G>C
NM_001009994.3:c.240-33G>C MANE Select	NP_001009994.1:n.240-33G>C
NM_001400774.1:c.-28+3048G>C	NP_001387703.1:n.-28+3048G>C
NM_001400899.1:c.303-33G>C	NP_001387828.1:n.303-33G>C
NM_001400900.1:c.*3044G>C	NP_001387829.1:n.*3044G>C
NR_174603.1:n.234+3048G>C
NR_174604.1:n.296+3048G>C
NR_174605.1:n.455+3150G>C
NR_174622.1:n.3282G>C