Canonical Allele Identifier: CA23896473

Gene: RAVER2

Linked Data

• dbSNP Id: rs147707540
• gnomAD v2: 1-65298661-AAAAC-A
• gnomAD v3: 1-64832978-AAAAC-A
• gnomAD v4: 1-64832978-AAAAC-A
• MyVariant Identifiers: chr1:g.65298662_65298665del (hg19) ; chr1:g.64832979_64832982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832990_64832993del , CM000663.2:g.64832990_64832993del	GRCh38
NC_000001.10:g.65298673_65298676del , CM000663.1:g.65298673_65298676del	GRCh37
NC_000001.9:g.65071261_65071264del	NCBI36
NG_023402.1:g.138523_138526del
NG_023402.2:g.239765_239768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2005_*2008del MANE Select	ENSP00000294428.3:n.*2005_*2008del
ENST00000294428.7:c.*2005_*2008del	ENSP00000294428.3:n.*2005_*2008del
ENST00000371072.8:c.*2005_*2008del	ENSP00000360112.4:n.*2005_*2008del
NM_018211.3:c.*2005_*2008del	NP_060681.2:n.*2005_*2008del
XM_006710738.2:c.*2005_*2008del	XP_006710801.2:n.*2005_*2008del
NM_001366165.1:c.*2005_*2008del	NP_001353094.1:n.*2005_*2008del
XR_946693.3:n.4424_4427del
NM_018211.4:c.*2005_*2008del	NP_060681.2:n.*2005_*2008del
NM_001366165.2:c.*2005_*2008del MANE Select	NP_001353094.1:n.*2005_*2008del