Canonical Allele Identifier: CA3908919

Gene: RIPPLY2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857353C>T , CM000668.2:g.83857353C>T	GRCh38
NC_000006.11:g.84567072C>T , CM000668.1:g.84567072C>T	GRCh37
NC_000006.10:g.84623791C>T	NCBI36
NG_046722.1:g.9088C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001009994.3:c.351C>T MANE Select	NP_001009994.1:p.Ser117=
ENST00000369689.6:c.351C>T MANE Select	ENSP00000358703.1:p.Ser117=
NM_001009994.2:c.351C>T	NP_001009994.1:p.Ser117=
NM_001400774.1:c.-28+3192C>T	NP_001387703.1:n.-28+3192C>T
NM_001400899.1:c.414C>T	NP_001387828.1:p.Ser138=
NM_001400900.1:c.*3188C>T	NP_001387829.1:n.*3188C>T
NR_103525.1:n.408C>T
NR_103525.2:n.346C>T
NR_174603.1:n.234+3192C>T
NR_174604.1:n.296+3192C>T
NR_174605.1:n.455+3294C>T
NR_174622.1:n.3426C>T
ENST00000369687.2:c.177C>T	ENSP00000358701.1:p.Ser59=
ENST00000369689.5:c.351C>T	ENSP00000358703.1:p.Ser117=
ENST00000635617.1:n.3764C>T