Canonical Allele Identifier: CA737900550

Gene: RAVER2

Linked Data

• dbSNP Id: rs1178877166
• gnomAD v3: 1-64832983-A-AAAC
• gnomAD v4: 1-64832983-A-AAAC
• MyVariant Identifiers: chr1:g.65298666_65298667insAAC (hg19) ; chr1:g.64832983_64832984insAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832986_64832988dup , CM000663.2:g.64832986_64832988dup	GRCh38
NC_000001.10:g.65298669_65298671dup , CM000663.1:g.65298669_65298671dup	GRCh37
NC_000001.9:g.65071257_65071259dup	NCBI36
NG_023402.1:g.138519_138521dup
NG_023402.2:g.239761_239763dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2001_*2003dup MANE Select	ENSP00000294428.3:n.*2001_*2003dup
ENST00000294428.7:c.*2001_*2003dup	ENSP00000294428.3:n.*2001_*2003dup
ENST00000371072.8:c.*2001_*2003dup	ENSP00000360112.4:n.*2001_*2003dup
NM_018211.3:c.*2001_*2003dup	NP_060681.2:n.*2001_*2003dup
XM_006710738.2:c.*2001_*2003dup	XP_006710801.2:n.*2001_*2003dup
NM_001366165.1:c.*2001_*2003dup	NP_001353094.1:n.*2001_*2003dup
XR_946693.3:n.4420_4422dup
NM_018211.4:c.*2001_*2003dup	NP_060681.2:n.*2001_*2003dup
NM_001366165.2:c.*2001_*2003dup MANE Select	NP_001353094.1:n.*2001_*2003dup