Canonical Allele Identifier: CA365049732

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857275-C-A
• MyVariant Identifiers: chr6:g.84566994C>A (hg19) ; chr6:g.83857275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857275C>A , CM000668.2:g.83857275C>A	GRCh38
NC_000006.11:g.84566994C>A , CM000668.1:g.84566994C>A	GRCh37
NC_000006.10:g.84623713C>A	NCBI36
NG_046722.1:g.9010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.273C>A MANE Select	ENSP00000358703.1:p.Tyr91Ter
ENST00000369687.2:c.99C>A	ENSP00000358701.1:p.Tyr33Ter
ENST00000369689.5:c.273C>A	ENSP00000358703.1:p.Tyr91Ter
ENST00000635617.1:n.3686C>A
NM_001009994.2:c.273C>A	NP_001009994.1:p.Tyr91Ter
NR_103525.1:n.330C>A
NR_103525.2:n.268C>A
NM_001009994.3:c.273C>A MANE Select	NP_001009994.1:p.Tyr91Ter
NM_001400774.1:c.-28+3114C>A	NP_001387703.1:n.-28+3114C>A
NM_001400899.1:c.336C>A	NP_001387828.1:p.Tyr112Ter
NM_001400900.1:c.*3110C>A	NP_001387829.1:n.*3110C>A
NR_174603.1:n.234+3114C>A
NR_174604.1:n.296+3114C>A
NR_174605.1:n.455+3216C>A
NR_174622.1:n.3348C>A