Canonical Allele Identifier: CA3908897

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs374753165
• ExAC: 6:84566937 A / C
• gnomAD v2: 6-84566937-A-C
• gnomAD v3: 6-83857218-A-C
• gnomAD v4: 6-83857218-A-C
• MyVariant Identifiers: chr6:g.84566937A>C (hg19) ; chr6:g.83857218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857218A>C , CM000668.2:g.83857218A>C	GRCh38
NC_000006.11:g.84566937A>C , CM000668.1:g.84566937A>C	GRCh37
NC_000006.10:g.84623656A>C	NCBI36
NG_046722.1:g.8953A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-24A>C MANE Select	ENSP00000358703.1:n.240-24A>C
ENST00000369687.2:c.66-24A>C	ENSP00000358701.1:n.66-24A>C
ENST00000369689.5:c.240-24A>C	ENSP00000358703.1:n.240-24A>C
ENST00000635617.1:n.3629A>C
NM_001009994.2:c.240-24A>C	NP_001009994.1:n.240-24A>C
NR_103525.1:n.297-24A>C
NR_103525.2:n.235-24A>C
NM_001009994.3:c.240-24A>C MANE Select	NP_001009994.1:n.240-24A>C
NM_001400774.1:c.-28+3057A>C	NP_001387703.1:n.-28+3057A>C
NM_001400899.1:c.303-24A>C	NP_001387828.1:n.303-24A>C
NM_001400900.1:c.*3053A>C	NP_001387829.1:n.*3053A>C
NR_174603.1:n.234+3057A>C
NR_174604.1:n.296+3057A>C
NR_174605.1:n.455+3159A>C
NR_174622.1:n.3291A>C