Canonical Allele Identifier: CA1002570231

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654228396
• gnomAD v3: 1-64833154-T-TGTTA
• gnomAD v4: 1-64833154-T-TGTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833155_64833158dup , CM000663.2:g.64833155_64833158dup	GRCh38
NC_000001.10:g.65298838_65298841dup , CM000663.1:g.65298838_65298841dup	GRCh37
NC_000001.9:g.65071426_65071429dup	NCBI36
NG_023402.1:g.138347_138350dup
NG_023402.2:g.239589_239592dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2170_*2173dup MANE Select	ENSP00000294428.3:n.*2170_*2173dup
ENST00000294428.7:c.*2170_*2173dup	ENSP00000294428.3:n.*2170_*2173dup
ENST00000371072.8:c.*2170_*2173dup	ENSP00000360112.4:n.*2170_*2173dup
NM_018211.3:c.*2170_*2173dup	NP_060681.2:n.*2170_*2173dup
XM_006710738.2:c.*2170_*2173dup	XP_006710801.2:n.*2170_*2173dup
NM_001366165.1:c.*2170_*2173dup	NP_001353094.1:n.*2170_*2173dup
XR_946693.3:n.4589_4592dup
NM_018211.4:c.*2170_*2173dup	NP_060681.2:n.*2170_*2173dup
NM_001366165.2:c.*2170_*2173dup MANE Select	NP_001353094.1:n.*2170_*2173dup