Canonical Allele Identifier: CA1002570094

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654215192
• gnomAD v3: 1-64833070-T-TGAA
• gnomAD v4: 1-64833070-T-TGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833075_64833077dup , CM000663.2:g.64833075_64833077dup	GRCh38
NC_000001.10:g.65298758_65298760dup , CM000663.1:g.65298758_65298760dup	GRCh37
NC_000001.9:g.65071346_65071348dup	NCBI36
NG_023402.1:g.138432_138434dup
NG_023402.2:g.239674_239676dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2090_*2092dup MANE Select	ENSP00000294428.3:n.*2090_*2092dup
ENST00000294428.7:c.*2090_*2092dup	ENSP00000294428.3:n.*2090_*2092dup
ENST00000371072.8:c.*2090_*2092dup	ENSP00000360112.4:n.*2090_*2092dup
NM_018211.3:c.*2090_*2092dup	NP_060681.2:n.*2090_*2092dup
XM_006710738.2:c.*2090_*2092dup	XP_006710801.2:n.*2090_*2092dup
NM_001366165.1:c.*2090_*2092dup	NP_001353094.1:n.*2090_*2092dup
XR_946693.3:n.4509_4511dup
NM_018211.4:c.*2090_*2092dup	NP_060681.2:n.*2090_*2092dup
NM_001366165.2:c.*2090_*2092dup MANE Select	NP_001353094.1:n.*2090_*2092dup