Canonical Allele Identifier: CA737900498

Gene: RAVER2

Linked Data

• dbSNP Id: rs1308141330
• gnomAD v3: 1-64832919-A-AC
• gnomAD v4: 1-64832919-A-AC
• MyVariant Identifiers: chr1:g.65298602_65298603insC (hg19) ; chr1:g.64832919_64832920insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832919_64832920insC , CM000663.2:g.64832919_64832920insC	GRCh38
NC_000001.10:g.65298602_65298603insC , CM000663.1:g.65298602_65298603insC	GRCh37
NC_000001.9:g.65071190_65071191insC	NCBI36
NG_023402.1:g.138585_138586insG
NG_023402.2:g.239827_239828insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*1934_*1935insC MANE Select	ENSP00000294428.3:n.*1934_*1935insC
ENST00000294428.7:c.*1934_*1935insC	ENSP00000294428.3:n.*1934_*1935insC
ENST00000371072.8:c.*1934_*1935insC	ENSP00000360112.4:n.*1934_*1935insC
NM_018211.3:c.*1934_*1935insC	NP_060681.2:n.*1934_*1935insC
XM_006710738.2:c.*1934_*1935insC	XP_006710801.2:n.*1934_*1935insC
NM_001366165.1:c.*1934_*1935insC	NP_001353094.1:n.*1934_*1935insC
XR_946693.3:n.4353_4354insC
NM_018211.4:c.*1934_*1935insC	NP_060681.2:n.*1934_*1935insC
NM_001366165.2:c.*1934_*1935insC MANE Select	NP_001353094.1:n.*1934_*1935insC