Canonical Allele Identifier: CA737900580

Gene: RAVER2

Linked Data

• dbSNP Id: rs372213868
• MyVariant Identifiers: chr1:g.65298732_65298735del (hg19) ; chr1:g.64833049_64833052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833053_64833056del , CM000663.2:g.64833053_64833056del	GRCh38
NC_000001.10:g.65298736_65298739del , CM000663.1:g.65298736_65298739del	GRCh37
NC_000001.9:g.65071324_65071327del	NCBI36
NG_023402.1:g.138453_138456del
NG_023402.2:g.239695_239698del

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2068_*2071del MANE Select	ENSP00000294428.3:n.*2068_*2071del
ENST00000294428.7:c.*2068_*2071del	ENSP00000294428.3:n.*2068_*2071del
ENST00000371072.8:c.*2068_*2071del	ENSP00000360112.4:n.*2068_*2071del
NM_018211.3:c.*2068_*2071del	NP_060681.2:n.*2068_*2071del
XM_006710738.2:c.*2068_*2071del	XP_006710801.2:n.*2068_*2071del
NM_001366165.1:c.*2068_*2071del	NP_001353094.1:n.*2068_*2071del
XR_946693.3:n.4487_4490del
NM_018211.4:c.*2068_*2071del	NP_060681.2:n.*2068_*2071del
NM_001366165.2:c.*2068_*2071del MANE Select	NP_001353094.1:n.*2068_*2071del