Canonical Allele Identifier: CA365049775

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857294-G-A
• COSMIC: COSM3176874
• MyVariant Identifiers: chr6:g.84567013G>A (hg19) ; chr6:g.83857294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857294G>A , CM000668.2:g.83857294G>A	GRCh38
NC_000006.11:g.84567013G>A , CM000668.1:g.84567013G>A	GRCh37
NC_000006.10:g.84623732G>A	NCBI36
NG_046722.1:g.9029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.292G>A MANE Select	ENSP00000358703.1:p.Ala98Thr
ENST00000369687.2:c.118G>A	ENSP00000358701.1:p.Ala40Thr
ENST00000369689.5:c.292G>A	ENSP00000358703.1:p.Ala98Thr
ENST00000635617.1:n.3705G>A
NM_001009994.2:c.292G>A	NP_001009994.1:p.Ala98Thr
NR_103525.1:n.349G>A
NR_103525.2:n.287G>A
NM_001009994.3:c.292G>A MANE Select	NP_001009994.1:p.Ala98Thr
NM_001400774.1:c.-28+3133G>A	NP_001387703.1:n.-28+3133G>A
NM_001400899.1:c.355G>A	NP_001387828.1:p.Ala119Thr
NM_001400900.1:c.*3129G>A	NP_001387829.1:n.*3129G>A
NR_174603.1:n.234+3133G>A
NR_174604.1:n.296+3133G>A
NR_174605.1:n.455+3235G>A
NR_174622.1:n.3367G>A