Canonical Allele Identifier: CA23896429

Gene: RAVER2

Linked Data

• dbSNP Id: rs3838402
• gnomAD v3: 1-64832940-A-AAGTC
• gnomAD v4: 1-64832940-A-AAGTC
• MyVariant Identifiers: chr1:g.65298623_65298624insAGTC (hg19) ; chr1:g.64832940_64832941insAGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832950_64832953dup , CM000663.2:g.64832950_64832953dup	GRCh38
NC_000001.10:g.65298633_65298636dup , CM000663.1:g.65298633_65298636dup	GRCh37
NC_000001.9:g.65071221_65071224dup	NCBI36
NG_023402.1:g.138561_138564dup
NG_023402.2:g.239803_239806dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*1965_*1968dup MANE Select	ENSP00000294428.3:n.*1965_*1968dup
ENST00000294428.7:c.*1965_*1968dup	ENSP00000294428.3:n.*1965_*1968dup
ENST00000371072.8:c.*1965_*1968dup	ENSP00000360112.4:n.*1965_*1968dup
NM_018211.3:c.*1965_*1968dup	NP_060681.2:n.*1965_*1968dup
XM_006710738.2:c.*1965_*1968dup	XP_006710801.2:n.*1965_*1968dup
NM_001366165.1:c.*1965_*1968dup	NP_001353094.1:n.*1965_*1968dup
XR_946693.3:n.4384_4387dup
NM_018211.4:c.*1965_*1968dup	NP_060681.2:n.*1965_*1968dup
NM_001366165.2:c.*1965_*1968dup MANE Select	NP_001353094.1:n.*1965_*1968dup