Canonical Allele Identifier: CA365049744

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857280-A-G
• MyVariant Identifiers: chr6:g.84566999A>G (hg19) ; chr6:g.83857280A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857280A>G , CM000668.2:g.83857280A>G	GRCh38
NC_000006.11:g.84566999A>G , CM000668.1:g.84566999A>G	GRCh37
NC_000006.10:g.84623718A>G	NCBI36
NG_046722.1:g.9015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.278A>G MANE Select	ENSP00000358703.1:p.Tyr93Cys
ENST00000369687.2:c.104A>G	ENSP00000358701.1:p.Tyr35Cys
ENST00000369689.5:c.278A>G	ENSP00000358703.1:p.Tyr93Cys
ENST00000635617.1:n.3691A>G
NM_001009994.2:c.278A>G	NP_001009994.1:p.Tyr93Cys
NR_103525.1:n.335A>G
NR_103525.2:n.273A>G
NM_001009994.3:c.278A>G MANE Select	NP_001009994.1:p.Tyr93Cys
NM_001400774.1:c.-28+3119A>G	NP_001387703.1:n.-28+3119A>G
NM_001400899.1:c.341A>G	NP_001387828.1:p.Tyr114Cys
NM_001400900.1:c.*3115A>G	NP_001387829.1:n.*3115A>G
NR_174603.1:n.234+3119A>G
NR_174604.1:n.296+3119A>G
NR_174605.1:n.455+3221A>G
NR_174622.1:n.3353A>G