Canonical Allele Identifier: CA3908905

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs368487926
• ExAC: 6:84567007 G / A
• gnomAD v2: 6-84567007-G-A
• gnomAD v3: 6-83857288-G-A
• gnomAD v4: 6-83857288-G-A
• MyVariant Identifiers: chr6:g.84567007G>A (hg19) ; chr6:g.83857288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857288G>A , CM000668.2:g.83857288G>A	GRCh38
NC_000006.11:g.84567007G>A , CM000668.1:g.84567007G>A	GRCh37
NC_000006.10:g.84623726G>A	NCBI36
NG_046722.1:g.9023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.286G>A MANE Select	ENSP00000358703.1:p.Ala96Thr
ENST00000369687.2:c.112G>A	ENSP00000358701.1:p.Ala38Thr
ENST00000369689.5:c.286G>A	ENSP00000358703.1:p.Ala96Thr
ENST00000635617.1:n.3699G>A
NM_001009994.2:c.286G>A	NP_001009994.1:p.Ala96Thr
NR_103525.1:n.343G>A
NR_103525.2:n.281G>A
NM_001009994.3:c.286G>A MANE Select	NP_001009994.1:p.Ala96Thr
NM_001400774.1:c.-28+3127G>A	NP_001387703.1:n.-28+3127G>A
NM_001400899.1:c.349G>A	NP_001387828.1:p.Ala117Thr
NM_001400900.1:c.*3123G>A	NP_001387829.1:n.*3123G>A
NR_174603.1:n.234+3127G>A
NR_174604.1:n.296+3127G>A
NR_174605.1:n.455+3229G>A
NR_174622.1:n.3361G>A