Canonical Allele Identifier: CA1002570045

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654206321
• gnomAD v3: 1-64832936-C-CAAA
• gnomAD v4: 1-64832936-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832939_64832941dup , CM000663.2:g.64832939_64832941dup	GRCh38
NC_000001.10:g.65298622_65298624dup , CM000663.1:g.65298622_65298624dup	GRCh37
NC_000001.9:g.65071210_65071212dup	NCBI36
NG_023402.1:g.138566_138568dup
NG_023402.2:g.239808_239810dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*1954_*1956dup MANE Select	ENSP00000294428.3:n.*1954_*1956dup
ENST00000294428.7:c.*1954_*1956dup	ENSP00000294428.3:n.*1954_*1956dup
ENST00000371072.8:c.*1954_*1956dup	ENSP00000360112.4:n.*1954_*1956dup
NM_018211.3:c.*1954_*1956dup	NP_060681.2:n.*1954_*1956dup
XM_006710738.2:c.*1954_*1956dup	XP_006710801.2:n.*1954_*1956dup
NM_001366165.1:c.*1954_*1956dup	NP_001353094.1:n.*1954_*1956dup
XR_946693.3:n.4373_4375dup
NM_018211.4:c.*1954_*1956dup	NP_060681.2:n.*1954_*1956dup
NM_001366165.2:c.*1954_*1956dup MANE Select	NP_001353094.1:n.*1954_*1956dup