Canonical Allele Identifier: CA650816529

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857189-A-G
• COSMIC: COSN18157637

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857189A>G , CM000668.2:g.83857189A>G	GRCh38
NC_000006.11:g.84566908A>G , CM000668.1:g.84566908A>G	GRCh37
NC_000006.10:g.84623627A>G	NCBI36
NG_046722.1:g.8924A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-53A>G MANE Select	ENSP00000358703.1:n.240-53A>G
ENST00000369687.2:c.66-53A>G	ENSP00000358701.1:n.66-53A>G
ENST00000369689.5:c.240-53A>G	ENSP00000358703.1:n.240-53A>G
ENST00000635617.1:n.3600A>G
NM_001009994.2:c.240-53A>G	NP_001009994.1:n.240-53A>G
NR_103525.1:n.297-53A>G
NR_103525.2:n.235-53A>G
NM_001009994.3:c.240-53A>G MANE Select	NP_001009994.1:n.240-53A>G
NM_001400774.1:c.-28+3028A>G	NP_001387703.1:n.-28+3028A>G
NM_001400899.1:c.303-53A>G	NP_001387828.1:n.303-53A>G
NM_001400900.1:c.*3024A>G	NP_001387829.1:n.*3024A>G
NR_174603.1:n.234+3028A>G
NR_174604.1:n.296+3028A>G
NR_174605.1:n.455+3130A>G
NR_174622.1:n.3262A>G