Canonical Allele Identifier: CA365049765

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs2099455129
• gnomAD v4: 6-83857289-C-T
• MyVariant Identifiers: chr6:g.84567008C>T (hg19) ; chr6:g.83857289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857289C>T , CM000668.2:g.83857289C>T	GRCh38
NC_000006.11:g.84567008C>T , CM000668.1:g.84567008C>T	GRCh37
NC_000006.10:g.84623727C>T	NCBI36
NG_046722.1:g.9024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.287C>T MANE Select	ENSP00000358703.1:p.Ala96Val
ENST00000369687.2:c.113C>T	ENSP00000358701.1:p.Ala38Val
ENST00000369689.5:c.287C>T	ENSP00000358703.1:p.Ala96Val
ENST00000635617.1:n.3700C>T
NM_001009994.2:c.287C>T	NP_001009994.1:p.Ala96Val
NR_103525.1:n.344C>T
NR_103525.2:n.282C>T
NM_001009994.3:c.287C>T MANE Select	NP_001009994.1:p.Ala96Val
NM_001400774.1:c.-28+3128C>T	NP_001387703.1:n.-28+3128C>T
NM_001400899.1:c.350C>T	NP_001387828.1:p.Ala117Val
NM_001400900.1:c.*3124C>T	NP_001387829.1:n.*3124C>T
NR_174603.1:n.234+3128C>T
NR_174604.1:n.296+3128C>T
NR_174605.1:n.455+3230C>T
NR_174622.1:n.3362C>T