Canonical Allele Identifier: CA365049768

Gene: RIPPLY2

Linked Data

• MyVariant Identifiers: chr6:g.84567010G>C (hg19) ; chr6:g.83857291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857291G>C , CM000668.2:g.83857291G>C	GRCh38
NC_000006.11:g.84567010G>C , CM000668.1:g.84567010G>C	GRCh37
NC_000006.10:g.84623729G>C	NCBI36
NG_046722.1:g.9026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.289G>C MANE Select	ENSP00000358703.1:p.Glu97Gln
ENST00000369687.2:c.115G>C	ENSP00000358701.1:p.Glu39Gln
ENST00000369689.5:c.289G>C	ENSP00000358703.1:p.Glu97Gln
ENST00000635617.1:n.3702G>C
NM_001009994.2:c.289G>C	NP_001009994.1:p.Glu97Gln
NR_103525.1:n.346G>C
NR_103525.2:n.284G>C
NM_001009994.3:c.289G>C MANE Select	NP_001009994.1:p.Glu97Gln
NM_001400774.1:c.-28+3130G>C	NP_001387703.1:n.-28+3130G>C
NM_001400899.1:c.352G>C	NP_001387828.1:p.Glu118Gln
NM_001400900.1:c.*3126G>C	NP_001387829.1:n.*3126G>C
NR_174603.1:n.234+3130G>C
NR_174604.1:n.296+3130G>C
NR_174605.1:n.455+3232G>C
NR_174622.1:n.3364G>C