Canonical Allele Identifier: CA523583481

Gene: RAVER2

Linked Data

• dbSNP Id: rs1553157282
• gnomAD v2: 1-65298530-C-CTGAA
• gnomAD v3: 1-64832847-C-CTGAA
• gnomAD v4: 1-64832847-C-CTGAA
• MyVariant Identifiers: chr1:g.65298530_65298531insTGAA (hg19) ; chr1:g.64832847_64832848insTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832848_64832849insGAAT , CM000663.2:g.64832848_64832849insGAAT	GRCh38
NC_000001.10:g.65298531_65298532insGAAT , CM000663.1:g.65298531_65298532insGAAT	GRCh37
NC_000001.9:g.65071119_65071120insGAAT	NCBI36
NG_023402.1:g.138657_138658insTTCA
NG_023402.2:g.239899_239900insTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*1863_*1864insGAAT MANE Select	ENSP00000294428.3:n.*1863_*1864insGAAT
ENST00000294428.7:c.*1863_*1864insGAAT	ENSP00000294428.3:n.*1863_*1864insGAAT
ENST00000371072.8:c.*1863_*1864insGAAT	ENSP00000360112.4:n.*1863_*1864insGAAT
NM_018211.3:c.*1863_*1864insGAAT	NP_060681.2:n.*1863_*1864insGAAT
XM_006710738.2:c.*1863_*1864insGAAT	XP_006710801.2:n.*1863_*1864insGAAT
NM_001366165.1:c.*1863_*1864insGAAT	NP_001353094.1:n.*1863_*1864insGAAT
XR_946693.3:n.4282_4283insGAAT
NM_018211.4:c.*1863_*1864insGAAT	NP_060681.2:n.*1863_*1864insGAAT
NM_001366165.2:c.*1863_*1864insGAAT MANE Select	NP_001353094.1:n.*1863_*1864insGAAT