Canonical Allele Identifier: CA23896489

Gene: RAVER2

Linked Data

• dbSNP Id: rs770718624
• gnomAD v2: 1-65298678-G-GTGTC
• gnomAD v3: 1-64832995-G-GTGTC
• gnomAD v4: 1-64832995-G-GTGTC
• MyVariant Identifiers: chr1:g.65298678_65298679insTGTC (hg19) ; chr1:g.64832995_64832996insTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832998_64833001dup , CM000663.2:g.64832998_64833001dup	GRCh38
NC_000001.10:g.65298681_65298684dup , CM000663.1:g.65298681_65298684dup	GRCh37
NC_000001.9:g.65071269_65071272dup	NCBI36
NG_023402.1:g.138506_138509dup
NG_023402.2:g.239748_239751dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2013_*2016dup MANE Select	ENSP00000294428.3:n.*2013_*2016dup
ENST00000294428.7:c.*2013_*2016dup	ENSP00000294428.3:n.*2013_*2016dup
ENST00000371072.8:c.*2013_*2016dup	ENSP00000360112.4:n.*2013_*2016dup
NM_018211.3:c.*2013_*2016dup	NP_060681.2:n.*2013_*2016dup
XM_006710738.2:c.*2013_*2016dup	XP_006710801.2:n.*2013_*2016dup
NM_001366165.1:c.*2013_*2016dup	NP_001353094.1:n.*2013_*2016dup
XR_946693.3:n.4432_4435dup
NM_018211.4:c.*2013_*2016dup	NP_060681.2:n.*2013_*2016dup
NM_001366165.2:c.*2013_*2016dup MANE Select	NP_001353094.1:n.*2013_*2016dup