Canonical Allele Identifier: CA365049679

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857253-C-A
• MyVariant Identifiers: chr6:g.84566972C>A (hg19) ; chr6:g.83857253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857253C>A , CM000668.2:g.83857253C>A	GRCh38
NC_000006.11:g.84566972C>A , CM000668.1:g.84566972C>A	GRCh37
NC_000006.10:g.84623691C>A	NCBI36
NG_046722.1:g.8988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.251C>A MANE Select	ENSP00000358703.1:p.Pro84Gln
ENST00000369687.2:c.77C>A	ENSP00000358701.1:p.Pro26Gln
ENST00000369689.5:c.251C>A	ENSP00000358703.1:p.Pro84Gln
ENST00000635617.1:n.3664C>A
NM_001009994.2:c.251C>A	NP_001009994.1:p.Pro84Gln
NR_103525.1:n.308C>A
NR_103525.2:n.246C>A
NM_001009994.3:c.251C>A MANE Select	NP_001009994.1:p.Pro84Gln
NM_001400774.1:c.-28+3092C>A	NP_001387703.1:n.-28+3092C>A
NM_001400899.1:c.314C>A	NP_001387828.1:p.Pro105Gln
NM_001400900.1:c.*3088C>A	NP_001387829.1:n.*3088C>A
NR_174603.1:n.234+3092C>A
NR_174604.1:n.296+3092C>A
NR_174605.1:n.455+3194C>A
NR_174622.1:n.3326C>A