Canonical Allele Identifier: CA451210563

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857254-A-G
• MyVariant Identifiers: chr6:g.84566973A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857254A>G , CM000668.2:g.83857254A>G	GRCh38
NC_000006.11:g.84566973A>G , CM000668.1:g.84566973A>G	GRCh37
NC_000006.10:g.84623692A>G	NCBI36
NG_046722.1:g.8989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.252A>G MANE Select	ENSP00000358703.1:p.Pro84=
ENST00000369687.2:c.78A>G	ENSP00000358701.1:p.Pro26=
ENST00000369689.5:c.252A>G	ENSP00000358703.1:p.Pro84=
ENST00000635617.1:n.3665A>G
NM_001009994.2:c.252A>G	NP_001009994.1:p.Pro84=
NR_103525.1:n.309A>G
NR_103525.2:n.247A>G
NM_001009994.3:c.252A>G MANE Select	NP_001009994.1:p.Pro84=
NM_001400774.1:c.-28+3093A>G	NP_001387703.1:n.-28+3093A>G
NM_001400899.1:c.315A>G	NP_001387828.1:p.Pro105=
NM_001400900.1:c.*3089A>G	NP_001387829.1:n.*3089A>G
NR_174603.1:n.234+3093A>G
NR_174604.1:n.296+3093A>G
NR_174605.1:n.455+3195A>G
NR_174622.1:n.3327A>G