Canonical Allele Identifier: CA737900552

Gene: RAVER2

Linked Data

• dbSNP Id: rs1264815001
• gnomAD v4: 1-64832987-A-AAAC
• MyVariant Identifiers: chr1:g.65298670_65298671insAAC (hg19) ; chr1:g.64832987_64832988insAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832990_64832992dup , CM000663.2:g.64832990_64832992dup	GRCh38
NC_000001.10:g.65298673_65298675dup , CM000663.1:g.65298673_65298675dup	GRCh37
NC_000001.9:g.65071261_65071263dup	NCBI36
NG_023402.1:g.138515_138517dup
NG_023402.2:g.239757_239759dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2005_*2007dup MANE Select	ENSP00000294428.3:n.*2005_*2007dup
ENST00000294428.7:c.*2005_*2007dup	ENSP00000294428.3:n.*2005_*2007dup
ENST00000371072.8:c.*2005_*2007dup	ENSP00000360112.4:n.*2005_*2007dup
NM_018211.3:c.*2005_*2007dup	NP_060681.2:n.*2005_*2007dup
XM_006710738.2:c.*2005_*2007dup	XP_006710801.2:n.*2005_*2007dup
NM_001366165.1:c.*2005_*2007dup	NP_001353094.1:n.*2005_*2007dup
XR_946693.3:n.4424_4426dup
NM_018211.4:c.*2005_*2007dup	NP_060681.2:n.*2005_*2007dup
NM_001366165.2:c.*2005_*2007dup MANE Select	NP_001353094.1:n.*2005_*2007dup