Canonical Allele Identifier: CA365049772

Gene: RIPPLY2

Linked Data

• MyVariant Identifiers: chr6:g.84567011A>C (hg19) ; chr6:g.83857292A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857292A>C , CM000668.2:g.83857292A>C	GRCh38
NC_000006.11:g.84567011A>C , CM000668.1:g.84567011A>C	GRCh37
NC_000006.10:g.84623730A>C	NCBI36
NG_046722.1:g.9027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.290A>C MANE Select	ENSP00000358703.1:p.Glu97Ala
ENST00000369687.2:c.116A>C	ENSP00000358701.1:p.Glu39Ala
ENST00000369689.5:c.290A>C	ENSP00000358703.1:p.Glu97Ala
ENST00000635617.1:n.3703A>C
NM_001009994.2:c.290A>C	NP_001009994.1:p.Glu97Ala
NR_103525.1:n.347A>C
NR_103525.2:n.285A>C
NM_001009994.3:c.290A>C MANE Select	NP_001009994.1:p.Glu97Ala
NM_001400774.1:c.-28+3131A>C	NP_001387703.1:n.-28+3131A>C
NM_001400899.1:c.353A>C	NP_001387828.1:p.Glu118Ala
NM_001400900.1:c.*3127A>C	NP_001387829.1:n.*3127A>C
NR_174603.1:n.234+3131A>C
NR_174604.1:n.296+3131A>C
NR_174605.1:n.455+3233A>C
NR_174622.1:n.3365A>C