Canonical Allele Identifier: CA365049682

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857255-A-G
• MyVariant Identifiers: chr6:g.84566974A>G (hg19) ; chr6:g.83857255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857255A>G , CM000668.2:g.83857255A>G	GRCh38
NC_000006.11:g.84566974A>G , CM000668.1:g.84566974A>G	GRCh37
NC_000006.10:g.84623693A>G	NCBI36
NG_046722.1:g.8990A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.253A>G MANE Select	ENSP00000358703.1:p.Lys85Glu
ENST00000369687.2:c.79A>G	ENSP00000358701.1:p.Lys27Glu
ENST00000369689.5:c.253A>G	ENSP00000358703.1:p.Lys85Glu
ENST00000635617.1:n.3666A>G
NM_001009994.2:c.253A>G	NP_001009994.1:p.Lys85Glu
NR_103525.1:n.310A>G
NR_103525.2:n.248A>G
NM_001009994.3:c.253A>G MANE Select	NP_001009994.1:p.Lys85Glu
NM_001400774.1:c.-28+3094A>G	NP_001387703.1:n.-28+3094A>G
NM_001400899.1:c.316A>G	NP_001387828.1:p.Lys106Glu
NM_001400900.1:c.*3090A>G	NP_001387829.1:n.*3090A>G
NR_174603.1:n.234+3094A>G
NR_174604.1:n.296+3094A>G
NR_174605.1:n.455+3196A>G
NR_174622.1:n.3328A>G