Canonical Allele Identifier: CA737900489

Gene: RAVER2

Linked Data

• dbSNP Id: rs1211278507
• gnomAD v3: 1-64832897-C-CAGA
• gnomAD v4: 1-64832897-C-CAGA
• MyVariant Identifiers: chr1:g.65298580_65298581insAGA (hg19) ; chr1:g.64832897_64832898insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832902_64832904dup , CM000663.2:g.64832902_64832904dup	GRCh38
NC_000001.10:g.65298585_65298587dup , CM000663.1:g.65298585_65298587dup	GRCh37
NC_000001.9:g.65071173_65071175dup	NCBI36
NG_023402.1:g.138605_138607dup
NG_023402.2:g.239847_239849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*1917_*1919dup MANE Select	ENSP00000294428.3:n.*1917_*1919dup
ENST00000294428.7:c.*1917_*1919dup	ENSP00000294428.3:n.*1917_*1919dup
ENST00000371072.8:c.*1917_*1919dup	ENSP00000360112.4:n.*1917_*1919dup
NM_018211.3:c.*1917_*1919dup	NP_060681.2:n.*1917_*1919dup
XM_006710738.2:c.*1917_*1919dup	XP_006710801.2:n.*1917_*1919dup
NM_001366165.1:c.*1917_*1919dup	NP_001353094.1:n.*1917_*1919dup
XR_946693.3:n.4336_4338dup
NM_018211.4:c.*1917_*1919dup	NP_060681.2:n.*1917_*1919dup
NM_001366165.2:c.*1917_*1919dup MANE Select	NP_001353094.1:n.*1917_*1919dup