Canonical Allele Identifier: CA1002570154

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654219960
• gnomAD v3: 1-64833097-G-GTT
• gnomAD v4: 1-64833097-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833099_64833100dup , CM000663.2:g.64833099_64833100dup	GRCh38
NC_000001.10:g.65298782_65298783dup , CM000663.1:g.65298782_65298783dup	GRCh37
NC_000001.9:g.65071370_65071371dup	NCBI36
NG_023402.1:g.138406_138407dup
NG_023402.2:g.239648_239649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2114_*2115dup MANE Select	ENSP00000294428.3:n.*2114_*2115dup
ENST00000294428.7:c.*2114_*2115dup	ENSP00000294428.3:n.*2114_*2115dup
ENST00000371072.8:c.*2114_*2115dup	ENSP00000360112.4:n.*2114_*2115dup
NM_018211.3:c.*2114_*2115dup	NP_060681.2:n.*2114_*2115dup
XM_006710738.2:c.*2114_*2115dup	XP_006710801.2:n.*2114_*2115dup
NM_001366165.1:c.*2114_*2115dup	NP_001353094.1:n.*2114_*2115dup
XR_946693.3:n.4533_4534dup
NM_018211.4:c.*2114_*2115dup	NP_060681.2:n.*2114_*2115dup
NM_001366165.2:c.*2114_*2115dup MANE Select	NP_001353094.1:n.*2114_*2115dup