Canonical Allele Identifier: CA2646050424

Gene: RAVER2

Linked Data

• gnomAD v4: 1-64833155-G-GTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833158_64833161dup , CM000663.2:g.64833158_64833161dup	GRCh38
NC_000001.10:g.65298841_65298844dup , CM000663.1:g.65298841_65298844dup	GRCh37
NC_000001.9:g.65071429_65071432dup	NCBI36
NG_023402.1:g.138346_138349dup
NG_023402.2:g.239588_239591dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2173_*2176dup MANE Select	ENSP00000294428.3:n.*2173_*2176dup
ENST00000294428.7:c.*2173_*2176dup	ENSP00000294428.3:n.*2173_*2176dup
ENST00000371072.8:c.*2173_*2176dup	ENSP00000360112.4:n.*2173_*2176dup
NM_018211.3:c.*2173_*2176dup	NP_060681.2:n.*2173_*2176dup
XM_006710738.2:c.*2173_*2176dup	XP_006710801.2:n.*2173_*2176dup
NM_001366165.1:c.*2173_*2176dup	NP_001353094.1:n.*2173_*2176dup
XR_946693.3:n.4592_4595dup
NM_018211.4:c.*2173_*2176dup	NP_060681.2:n.*2173_*2176dup
NM_001366165.2:c.*2173_*2176dup MANE Select	NP_001353094.1:n.*2173_*2176dup