Canonical Allele Identifier: CA523583529

Gene: RAVER2

Linked Data

• dbSNP Id: rs1462676631
• gnomAD v2: 1-65298786-T-TTGTC
• gnomAD v3: 1-64833103-T-TTGTC
• gnomAD v4: 1-64833103-T-TTGTC
• MyVariant Identifiers: chr1:g.65298786_65298787insTGTC (hg19) ; chr1:g.64833103_64833104insTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833106_64833107insCTGT , CM000663.2:g.64833106_64833107insCTGT	GRCh38
NC_000001.10:g.65298789_65298790insCTGT , CM000663.1:g.65298789_65298790insCTGT	GRCh37
NC_000001.9:g.65071377_65071378insCTGT	NCBI36
NG_023402.1:g.138401_138402insGACA
NG_023402.2:g.239643_239644insGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2121_*2122insCTGT MANE Select	ENSP00000294428.3:n.*2121_*2122insCTGT
ENST00000294428.7:c.*2121_*2122insCTGT	ENSP00000294428.3:n.*2121_*2122insCTGT
ENST00000371072.8:c.*2121_*2122insCTGT	ENSP00000360112.4:n.*2121_*2122insCTGT
NM_018211.3:c.*2121_*2122insCTGT	NP_060681.2:n.*2121_*2122insCTGT
XM_006710738.2:c.*2121_*2122insCTGT	XP_006710801.2:n.*2121_*2122insCTGT
NM_001366165.1:c.*2121_*2122insCTGT	NP_001353094.1:n.*2121_*2122insCTGT
XR_946693.3:n.4540_4541insCTGT
NM_018211.4:c.*2121_*2122insCTGT	NP_060681.2:n.*2121_*2122insCTGT
NM_001366165.2:c.*2121_*2122insCTGT MANE Select	NP_001353094.1:n.*2121_*2122insCTGT