Canonical Allele Identifier: CA1002570116

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654216199
• gnomAD v4: 1-64833081-A-AAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833084_64833087dup , CM000663.2:g.64833084_64833087dup	GRCh38
NC_000001.10:g.65298767_65298770dup , CM000663.1:g.65298767_65298770dup	GRCh37
NC_000001.9:g.65071355_65071358dup	NCBI36
NG_023402.1:g.138420_138423dup
NG_023402.2:g.239662_239665dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2099_*2102dup MANE Select	ENSP00000294428.3:n.*2099_*2102dup
ENST00000294428.7:c.*2099_*2102dup	ENSP00000294428.3:n.*2099_*2102dup
ENST00000371072.8:c.*2099_*2102dup	ENSP00000360112.4:n.*2099_*2102dup
NM_018211.3:c.*2099_*2102dup	NP_060681.2:n.*2099_*2102dup
XM_006710738.2:c.*2099_*2102dup	XP_006710801.2:n.*2099_*2102dup
NM_001366165.1:c.*2099_*2102dup	NP_001353094.1:n.*2099_*2102dup
XR_946693.3:n.4518_4521dup
NM_018211.4:c.*2099_*2102dup	NP_060681.2:n.*2099_*2102dup
NM_001366165.2:c.*2099_*2102dup MANE Select	NP_001353094.1:n.*2099_*2102dup