Canonical Allele Identifier: CA142674788

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs987548594
• MyVariant Identifiers: chr6:g.84566997A>C (hg19) ; chr6:g.83857278A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857278A>C , CM000668.2:g.83857278A>C	GRCh38
NC_000006.11:g.84566997A>C , CM000668.1:g.84566997A>C	GRCh37
NC_000006.10:g.84623716A>C	NCBI36
NG_046722.1:g.9013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.276A>C MANE Select	ENSP00000358703.1:p.Leu92Phe
ENST00000369687.2:c.102A>C	ENSP00000358701.1:p.Leu34Phe
ENST00000369689.5:c.276A>C	ENSP00000358703.1:p.Leu92Phe
ENST00000635617.1:n.3689A>C
NM_001009994.2:c.276A>C	NP_001009994.1:p.Leu92Phe
NR_103525.1:n.333A>C
NR_103525.2:n.271A>C
NM_001009994.3:c.276A>C MANE Select	NP_001009994.1:p.Leu92Phe
NM_001400774.1:c.-28+3117A>C	NP_001387703.1:n.-28+3117A>C
NM_001400899.1:c.339A>C	NP_001387828.1:p.Leu113Phe
NM_001400900.1:c.*3113A>C	NP_001387829.1:n.*3113A>C
NR_174603.1:n.234+3117A>C
NR_174604.1:n.296+3117A>C
NR_174605.1:n.455+3219A>C
NR_174622.1:n.3351A>C