Canonical Allele Identifier: CA3908895

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs537239690
• ExAC: 6:84566926 G / A
• gnomAD v2: 6-84566926-G-A
• gnomAD v3: 6-83857207-G-A
• gnomAD v4: 6-83857207-G-A
• MyVariant Identifiers: chr6:g.84566926G>A (hg19) ; chr6:g.83857207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857207G>A , CM000668.2:g.83857207G>A	GRCh38
NC_000006.11:g.84566926G>A , CM000668.1:g.84566926G>A	GRCh37
NC_000006.10:g.84623645G>A	NCBI36
NG_046722.1:g.8942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-35G>A MANE Select	ENSP00000358703.1:n.240-35G>A
ENST00000369687.2:c.66-35G>A	ENSP00000358701.1:n.66-35G>A
ENST00000369689.5:c.240-35G>A	ENSP00000358703.1:n.240-35G>A
ENST00000635617.1:n.3618G>A
NM_001009994.2:c.240-35G>A	NP_001009994.1:n.240-35G>A
NR_103525.1:n.297-35G>A
NR_103525.2:n.235-35G>A
NM_001009994.3:c.240-35G>A MANE Select	NP_001009994.1:n.240-35G>A
NM_001400774.1:c.-28+3046G>A	NP_001387703.1:n.-28+3046G>A
NM_001400899.1:c.303-35G>A	NP_001387828.1:n.303-35G>A
NM_001400900.1:c.*3042G>A	NP_001387829.1:n.*3042G>A
NR_174603.1:n.234+3046G>A
NR_174604.1:n.296+3046G>A
NR_174605.1:n.455+3148G>A
NR_174622.1:n.3280G>A