Canonical Allele Identifier: CA365049709

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857265-G-C
• COSMIC: COSM4803512
• MyVariant Identifiers: chr6:g.84566984G>C (hg19) ; chr6:g.83857265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857265G>C , CM000668.2:g.83857265G>C	GRCh38
NC_000006.11:g.84566984G>C , CM000668.1:g.84566984G>C	GRCh37
NC_000006.10:g.84623703G>C	NCBI36
NG_046722.1:g.9000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.263G>C MANE Select	ENSP00000358703.1:p.Cys88Ser
ENST00000369687.2:c.89G>C	ENSP00000358701.1:p.Cys30Ser
ENST00000369689.5:c.263G>C	ENSP00000358703.1:p.Cys88Ser
ENST00000635617.1:n.3676G>C
NM_001009994.2:c.263G>C	NP_001009994.1:p.Cys88Ser
NR_103525.1:n.320G>C
NR_103525.2:n.258G>C
NM_001009994.3:c.263G>C MANE Select	NP_001009994.1:p.Cys88Ser
NM_001400774.1:c.-28+3104G>C	NP_001387703.1:n.-28+3104G>C
NM_001400899.1:c.326G>C	NP_001387828.1:p.Cys109Ser
NM_001400900.1:c.*3100G>C	NP_001387829.1:n.*3100G>C
NR_174603.1:n.234+3104G>C
NR_174604.1:n.296+3104G>C
NR_174605.1:n.455+3206G>C
NR_174622.1:n.3338G>C