Canonical Allele Identifier: CA365049698

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs2099455122
• gnomAD v4: 6-83857261-A-T
• MyVariant Identifiers: chr6:g.84566980A>T (hg19) ; chr6:g.83857261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857261A>T , CM000668.2:g.83857261A>T	GRCh38
NC_000006.11:g.84566980A>T , CM000668.1:g.84566980A>T	GRCh37
NC_000006.10:g.84623699A>T	NCBI36
NG_046722.1:g.8996A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.259A>T MANE Select	ENSP00000358703.1:p.Lys87Ter
ENST00000369687.2:c.85A>T	ENSP00000358701.1:p.Lys29Ter
ENST00000369689.5:c.259A>T	ENSP00000358703.1:p.Lys87Ter
ENST00000635617.1:n.3672A>T
NM_001009994.2:c.259A>T	NP_001009994.1:p.Lys87Ter
NR_103525.1:n.316A>T
NR_103525.2:n.254A>T
NM_001009994.3:c.259A>T MANE Select	NP_001009994.1:p.Lys87Ter
NM_001400774.1:c.-28+3100A>T	NP_001387703.1:n.-28+3100A>T
NM_001400899.1:c.322A>T	NP_001387828.1:p.Lys108Ter
NM_001400900.1:c.*3096A>T	NP_001387829.1:n.*3096A>T
NR_174603.1:n.234+3100A>T
NR_174604.1:n.296+3100A>T
NR_174605.1:n.455+3202A>T
NR_174622.1:n.3334A>T