Canonical Allele Identifier: CA365049664

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857247-T-C
• MyVariant Identifiers: chr6:g.84566966T>C (hg19) ; chr6:g.83857247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857247T>C , CM000668.2:g.83857247T>C	GRCh38
NC_000006.11:g.84566966T>C , CM000668.1:g.84566966T>C	GRCh37
NC_000006.10:g.84623685T>C	NCBI36
NG_046722.1:g.8982T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.245T>C MANE Select	ENSP00000358703.1:p.Phe82Ser
ENST00000369687.2:c.71T>C	ENSP00000358701.1:p.Phe24Ser
ENST00000369689.5:c.245T>C	ENSP00000358703.1:p.Phe82Ser
ENST00000635617.1:n.3658T>C
NM_001009994.2:c.245T>C	NP_001009994.1:p.Phe82Ser
NR_103525.1:n.302T>C
NR_103525.2:n.240T>C
NM_001009994.3:c.245T>C MANE Select	NP_001009994.1:p.Phe82Ser
NM_001400774.1:c.-28+3086T>C	NP_001387703.1:n.-28+3086T>C
NM_001400899.1:c.308T>C	NP_001387828.1:p.Phe103Ser
NM_001400900.1:c.*3082T>C	NP_001387829.1:n.*3082T>C
NR_174603.1:n.234+3086T>C
NR_174604.1:n.296+3086T>C
NR_174605.1:n.455+3188T>C
NR_174622.1:n.3320T>C