Canonical Allele Identifier: CA2646050192

Gene: RAVER2

Linked Data

• gnomAD v4: 1-64832946-GTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832947_64832949del , CM000663.2:g.64832947_64832949del	GRCh38
NC_000001.10:g.65298630_65298632del , CM000663.1:g.65298630_65298632del	GRCh37
NC_000001.9:g.65071218_65071220del	NCBI36
NG_023402.1:g.138556_138558del
NG_023402.2:g.239798_239800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*1962_*1964del MANE Select	ENSP00000294428.3:n.*1962_*1964del
ENST00000294428.7:c.*1962_*1964del	ENSP00000294428.3:n.*1962_*1964del
ENST00000371072.8:c.*1962_*1964del	ENSP00000360112.4:n.*1962_*1964del
NM_018211.3:c.*1962_*1964del	NP_060681.2:n.*1962_*1964del
XM_006710738.2:c.*1962_*1964del	XP_006710801.2:n.*1962_*1964del
NM_001366165.1:c.*1962_*1964del	NP_001353094.1:n.*1962_*1964del
XR_946693.3:n.4381_4383del
NM_018211.4:c.*1962_*1964del	NP_060681.2:n.*1962_*1964del
NM_001366165.2:c.*1962_*1964del MANE Select	NP_001353094.1:n.*1962_*1964del