Canonical Allele Identifier: CA3908920

Gene: RIPPLY2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857354G>A , CM000668.2:g.83857354G>A	GRCh38
NC_000006.11:g.84567073G>A , CM000668.1:g.84567073G>A	GRCh37
NC_000006.10:g.84623792G>A	NCBI36
NG_046722.1:g.9089G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009994.3:c.352G>A MANE Select	NP_001009994.1:p.Glu118Lys
ENST00000369689.6:c.352G>A MANE Select	ENSP00000358703.1:p.Glu118Lys
NM_001009994.2:c.352G>A	NP_001009994.1:p.Glu118Lys
NM_001400774.1:c.-28+3193G>A	NP_001387703.1:n.-28+3193G>A
NM_001400899.1:c.415G>A	NP_001387828.1:p.Glu139Lys
NM_001400900.1:c.*3189G>A	NP_001387829.1:n.*3189G>A
NR_103525.1:n.409G>A
NR_103525.2:n.347G>A
NR_174603.1:n.234+3193G>A
NR_174604.1:n.296+3193G>A
NR_174605.1:n.455+3295G>A
NR_174622.1:n.3427G>A
ENST00000369687.2:c.178G>A	ENSP00000358701.1:p.Glu60Lys
ENST00000369689.5:c.352G>A	ENSP00000358703.1:p.Glu118Lys
ENST00000635617.1:n.3765G>A