Canonical Allele Identifier: CA1002570056

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654208033
• gnomAD v3: 1-64832958-AG-A
• gnomAD v4: 1-64832958-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832960del , CM000663.2:g.64832960del	GRCh38
NC_000001.10:g.65298643del , CM000663.1:g.65298643del	GRCh37
NC_000001.9:g.65071231del	NCBI36
NG_023402.1:g.138546del
NG_023402.2:g.239788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*1975del MANE Select	ENSP00000294428.3:n.*1975del
ENST00000294428.7:c.*1975del	ENSP00000294428.3:n.*1975del
ENST00000371072.8:c.*1975del	ENSP00000360112.4:n.*1975del
NM_018211.3:c.*1975del	NP_060681.2:n.*1975del
XM_006710738.2:c.*1975del	XP_006710801.2:n.*1975del
NM_001366165.1:c.*1975del	NP_001353094.1:n.*1975del
XR_946693.3:n.4394del
NM_018211.4:c.*1975del	NP_060681.2:n.*1975del
NM_001366165.2:c.*1975del MANE Select	NP_001353094.1:n.*1975del