Canonical Allele Identifier: CA365049673

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857251-G-T
• MyVariant Identifiers: chr6:g.84566970G>T (hg19) ; chr6:g.83857251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857251G>T , CM000668.2:g.83857251G>T	GRCh38
NC_000006.11:g.84566970G>T , CM000668.1:g.84566970G>T	GRCh37
NC_000006.10:g.84623689G>T	NCBI36
NG_046722.1:g.8986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.249G>T MANE Select	ENSP00000358703.1:p.Trp83Cys
ENST00000369687.2:c.75G>T	ENSP00000358701.1:p.Trp25Cys
ENST00000369689.5:c.249G>T	ENSP00000358703.1:p.Trp83Cys
ENST00000635617.1:n.3662G>T
NM_001009994.2:c.249G>T	NP_001009994.1:p.Trp83Cys
NR_103525.1:n.306G>T
NR_103525.2:n.244G>T
NM_001009994.3:c.249G>T MANE Select	NP_001009994.1:p.Trp83Cys
NM_001400774.1:c.-28+3090G>T	NP_001387703.1:n.-28+3090G>T
NM_001400899.1:c.312G>T	NP_001387828.1:p.Trp104Cys
NM_001400900.1:c.*3086G>T	NP_001387829.1:n.*3086G>T
NR_174603.1:n.234+3090G>T
NR_174604.1:n.296+3090G>T
NR_174605.1:n.455+3192G>T
NR_174622.1:n.3324G>T