Canonical Allele Identifier: CA23896418

Gene: RAVER2

Linked Data

• dbSNP Id: rs576908438
• gnomAD v2: 1-65298607-G-GCAA
• gnomAD v3: 1-64832924-G-GCAA
• gnomAD v4: 1-64832924-G-GCAA
• MyVariant Identifiers: chr1:g.65298607_65298608insCAA (hg19) ; chr1:g.64832924_64832925insCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832927_64832929dup , CM000663.2:g.64832927_64832929dup	GRCh38
NC_000001.10:g.65298610_65298612dup , CM000663.1:g.65298610_65298612dup	GRCh37
NC_000001.9:g.65071198_65071200dup	NCBI36
NG_023402.1:g.138578_138580dup
NG_023402.2:g.239820_239822dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*1942_*1944dup MANE Select	ENSP00000294428.3:n.*1942_*1944dup
ENST00000294428.7:c.*1942_*1944dup	ENSP00000294428.3:n.*1942_*1944dup
ENST00000371072.8:c.*1942_*1944dup	ENSP00000360112.4:n.*1942_*1944dup
NM_018211.3:c.*1942_*1944dup	NP_060681.2:n.*1942_*1944dup
XM_006710738.2:c.*1942_*1944dup	XP_006710801.2:n.*1942_*1944dup
NM_001366165.1:c.*1942_*1944dup	NP_001353094.1:n.*1942_*1944dup
XR_946693.3:n.4361_4363dup
NM_018211.4:c.*1942_*1944dup	NP_060681.2:n.*1942_*1944dup
NM_001366165.2:c.*1942_*1944dup MANE Select	NP_001353094.1:n.*1942_*1944dup