Canonical Allele Identifier: CA2679552920

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857188-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857188G>A , CM000668.2:g.83857188G>A	GRCh38
NC_000006.11:g.84566907G>A , CM000668.1:g.84566907G>A	GRCh37
NC_000006.10:g.84623626G>A	NCBI36
NG_046722.1:g.8923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-54G>A MANE Select	ENSP00000358703.1:n.240-54G>A
ENST00000369687.2:c.66-54G>A	ENSP00000358701.1:n.66-54G>A
ENST00000369689.5:c.240-54G>A	ENSP00000358703.1:n.240-54G>A
ENST00000635617.1:n.3599G>A
NM_001009994.2:c.240-54G>A	NP_001009994.1:n.240-54G>A
NR_103525.1:n.297-54G>A
NR_103525.2:n.235-54G>A
NM_001009994.3:c.240-54G>A MANE Select	NP_001009994.1:n.240-54G>A
NM_001400774.1:c.-28+3027G>A	NP_001387703.1:n.-28+3027G>A
NM_001400899.1:c.303-54G>A	NP_001387828.1:n.303-54G>A
NM_001400900.1:c.*3023G>A	NP_001387829.1:n.*3023G>A
NR_174603.1:n.234+3027G>A
NR_174604.1:n.296+3027G>A
NR_174605.1:n.455+3129G>A
NR_174622.1:n.3261G>A