Canonical Allele Identifier: CA1091253053

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs2099455113
• gnomAD v3: 6-83857185-C-G
• gnomAD v4: 6-83857185-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857185C>G , CM000668.2:g.83857185C>G	GRCh38
NC_000006.11:g.84566904C>G , CM000668.1:g.84566904C>G	GRCh37
NC_000006.10:g.84623623C>G	NCBI36
NG_046722.1:g.8920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-57C>G MANE Select	ENSP00000358703.1:n.240-57C>G
ENST00000369687.2:c.66-57C>G	ENSP00000358701.1:n.66-57C>G
ENST00000369689.5:c.240-57C>G	ENSP00000358703.1:n.240-57C>G
ENST00000635617.1:n.3596C>G
NM_001009994.2:c.240-57C>G	NP_001009994.1:n.240-57C>G
NR_103525.1:n.297-57C>G
NR_103525.2:n.235-57C>G
NM_001009994.3:c.240-57C>G MANE Select	NP_001009994.1:n.240-57C>G
NM_001400774.1:c.-28+3024C>G	NP_001387703.1:n.-28+3024C>G
NM_001400899.1:c.303-57C>G	NP_001387828.1:n.303-57C>G
NM_001400900.1:c.*3020C>G	NP_001387829.1:n.*3020C>G
NR_174603.1:n.234+3024C>G
NR_174604.1:n.296+3024C>G
NR_174605.1:n.455+3126C>G
NR_174622.1:n.3258C>G