Canonical Allele Identifier: CA737900750

Gene: RAVER2

Linked Data

• dbSNP Id: rs1374922882
• gnomAD v3: 1-64833155-G-GTTA
• gnomAD v4: 1-64833155-G-GTTA
• MyVariant Identifiers: chr1:g.65298838_65298839insTTA (hg19) ; chr1:g.64833155_64833156insTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833158_64833160dup , CM000663.2:g.64833158_64833160dup	GRCh38
NC_000001.10:g.65298841_65298843dup , CM000663.1:g.65298841_65298843dup	GRCh37
NC_000001.9:g.65071429_65071431dup	NCBI36
NG_023402.1:g.138347_138349dup
NG_023402.2:g.239589_239591dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2173_*2175dup MANE Select	ENSP00000294428.3:n.*2173_*2175dup
ENST00000294428.7:c.*2173_*2175dup	ENSP00000294428.3:n.*2173_*2175dup
ENST00000371072.8:c.*2173_*2175dup	ENSP00000360112.4:n.*2173_*2175dup
NM_018211.3:c.*2173_*2175dup	NP_060681.2:n.*2173_*2175dup
XM_006710738.2:c.*2173_*2175dup	XP_006710801.2:n.*2173_*2175dup
NM_001366165.1:c.*2173_*2175dup	NP_001353094.1:n.*2173_*2175dup
XR_946693.3:n.4592_4594dup
NM_018211.4:c.*2173_*2175dup	NP_060681.2:n.*2173_*2175dup
NM_001366165.2:c.*2173_*2175dup MANE Select	NP_001353094.1:n.*2173_*2175dup