Canonical Allele Identifier: CA2679552924

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857191-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857191T>G , CM000668.2:g.83857191T>G	GRCh38
NC_000006.11:g.84566910T>G , CM000668.1:g.84566910T>G	GRCh37
NC_000006.10:g.84623629T>G	NCBI36
NG_046722.1:g.8926T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-51T>G MANE Select	ENSP00000358703.1:n.240-51T>G
ENST00000369687.2:c.66-51T>G	ENSP00000358701.1:n.66-51T>G
ENST00000369689.5:c.240-51T>G	ENSP00000358703.1:n.240-51T>G
ENST00000635617.1:n.3602T>G
NM_001009994.2:c.240-51T>G	NP_001009994.1:n.240-51T>G
NR_103525.1:n.297-51T>G
NR_103525.2:n.235-51T>G
NM_001009994.3:c.240-51T>G MANE Select	NP_001009994.1:n.240-51T>G
NM_001400774.1:c.-28+3030T>G	NP_001387703.1:n.-28+3030T>G
NM_001400899.1:c.303-51T>G	NP_001387828.1:n.303-51T>G
NM_001400900.1:c.*3026T>G	NP_001387829.1:n.*3026T>G
NR_174603.1:n.234+3030T>G
NR_174604.1:n.296+3030T>G
NR_174605.1:n.455+3132T>G
NR_174622.1:n.3264T>G