Canonical Allele Identifier: CA3908902

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs144753674
• ExAC: 6:84566990 A / T
• gnomAD v2: 6-84566990-A-T
• gnomAD v4: 6-83857271-A-T
• MyVariant Identifiers: chr6:g.84566990A>T (hg19) ; chr6:g.83857271A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857271A>T , CM000668.2:g.83857271A>T	GRCh38
NC_000006.11:g.84566990A>T , CM000668.1:g.84566990A>T	GRCh37
NC_000006.10:g.84623709A>T	NCBI36
NG_046722.1:g.9006A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.269A>T MANE Select	ENSP00000358703.1:p.Asp90Val
ENST00000369687.2:c.95A>T	ENSP00000358701.1:p.Asp32Val
ENST00000369689.5:c.269A>T	ENSP00000358703.1:p.Asp90Val
ENST00000635617.1:n.3682A>T
NM_001009994.2:c.269A>T	NP_001009994.1:p.Asp90Val
NR_103525.1:n.326A>T
NR_103525.2:n.264A>T
NM_001009994.3:c.269A>T MANE Select	NP_001009994.1:p.Asp90Val
NM_001400774.1:c.-28+3110A>T	NP_001387703.1:n.-28+3110A>T
NM_001400899.1:c.332A>T	NP_001387828.1:p.Asp111Val
NM_001400900.1:c.*3106A>T	NP_001387829.1:n.*3106A>T
NR_174603.1:n.234+3110A>T
NR_174604.1:n.296+3110A>T
NR_174605.1:n.455+3212A>T
NR_174622.1:n.3344A>T