Canonical Allele Identifier: CA365049662

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857246-T-C
• MyVariant Identifiers: chr6:g.84566965T>C (hg19) ; chr6:g.83857246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857246T>C , CM000668.2:g.83857246T>C	GRCh38
NC_000006.11:g.84566965T>C , CM000668.1:g.84566965T>C	GRCh37
NC_000006.10:g.84623684T>C	NCBI36
NG_046722.1:g.8981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.244T>C MANE Select	ENSP00000358703.1:p.Phe82Leu
ENST00000369687.2:c.70T>C	ENSP00000358701.1:p.Phe24Leu
ENST00000369689.5:c.244T>C	ENSP00000358703.1:p.Phe82Leu
ENST00000635617.1:n.3657T>C
NM_001009994.2:c.244T>C	NP_001009994.1:p.Phe82Leu
NR_103525.1:n.301T>C
NR_103525.2:n.239T>C
NM_001009994.3:c.244T>C MANE Select	NP_001009994.1:p.Phe82Leu
NM_001400774.1:c.-28+3085T>C	NP_001387703.1:n.-28+3085T>C
NM_001400899.1:c.307T>C	NP_001387828.1:p.Phe103Leu
NM_001400900.1:c.*3081T>C	NP_001387829.1:n.*3081T>C
NR_174603.1:n.234+3085T>C
NR_174604.1:n.296+3085T>C
NR_174605.1:n.455+3187T>C
NR_174622.1:n.3319T>C