Canonical Allele Identifier: CA523583552

Gene: RAVER2

Linked Data

• dbSNP Id: rs1429490590
• gnomAD v2: 1-65298887-C-CTT
• gnomAD v3: 1-64833204-C-CTT
• gnomAD v4: 1-64833204-C-CTT
• MyVariant Identifiers: chr1:g.65298887_65298888insTT (hg19) ; chr1:g.64833204_64833205insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833205_64833206dup , CM000663.2:g.64833205_64833206dup	GRCh38
NC_000001.10:g.65298888_65298889dup , CM000663.1:g.65298888_65298889dup	GRCh37
NC_000001.9:g.65071476_65071477dup	NCBI36
NG_023402.1:g.138299_138300dup
NG_023402.2:g.239541_239542dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2220_*2221dup MANE Select	ENSP00000294428.3:n.*2220_*2221dup
ENST00000294428.7:c.*2220_*2221dup	ENSP00000294428.3:n.*2220_*2221dup
ENST00000371072.8:c.*2220_*2221dup	ENSP00000360112.4:n.*2220_*2221dup
NM_018211.3:c.*2220_*2221dup	NP_060681.2:n.*2220_*2221dup
XM_006710738.2:c.*2220_*2221dup	XP_006710801.2:n.*2220_*2221dup
NM_001366165.1:c.*2220_*2221dup	NP_001353094.1:n.*2220_*2221dup
XR_946693.3:n.4639_4640dup
NM_018211.4:c.*2220_*2221dup	NP_060681.2:n.*2220_*2221dup
NM_001366165.2:c.*2220_*2221dup MANE Select	NP_001353094.1:n.*2220_*2221dup