Canonical Allele Identifier: CA737900472

Gene: RAVER2

Linked Data

• dbSNP Id: rs1171037121
• gnomAD v3: 1-64832885-C-CAAACA
• gnomAD v4: 1-64832885-C-CAAACA
• MyVariant Identifiers: chr1:g.65298568_65298569insAAACA (hg19) ; chr1:g.64832885_64832886insAAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832888_64832892dup , CM000663.2:g.64832888_64832892dup	GRCh38
NC_000001.10:g.65298571_65298575dup , CM000663.1:g.65298571_65298575dup	GRCh37
NC_000001.9:g.65071159_65071163dup	NCBI36
NG_023402.1:g.138615_138619dup
NG_023402.2:g.239857_239861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*1903_*1907dup MANE Select	ENSP00000294428.3:n.*1903_*1907dup
ENST00000294428.7:c.*1903_*1907dup	ENSP00000294428.3:n.*1903_*1907dup
ENST00000371072.8:c.*1903_*1907dup	ENSP00000360112.4:n.*1903_*1907dup
NM_018211.3:c.*1903_*1907dup	NP_060681.2:n.*1903_*1907dup
XM_006710738.2:c.*1903_*1907dup	XP_006710801.2:n.*1903_*1907dup
NM_001366165.1:c.*1903_*1907dup	NP_001353094.1:n.*1903_*1907dup
XR_946693.3:n.4322_4326dup
NM_018211.4:c.*1903_*1907dup	NP_060681.2:n.*1903_*1907dup
NM_001366165.2:c.*1903_*1907dup MANE Select	NP_001353094.1:n.*1903_*1907dup