Canonical Allele Identifier: CA1172053891

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654217418
• gnomAD v4: 1-64833091-G-GTGTTTGTTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833099_64833100insGTTTGTTTGTT , CM000663.2:g.64833099_64833100insGTTTGTTTGTT	GRCh38
NC_000001.10:g.65298782_65298783insGTTTGTTTGTT , CM000663.1:g.65298782_65298783insGTTTGTTTGTT	GRCh37
NC_000001.9:g.65071370_65071371insGTTTGTTTGTT	NCBI36
NG_023402.1:g.138413_138414insAACAACAAACA
NG_023402.2:g.239655_239656insAACAACAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2114_*2115insGTTTGTTTGTT MANE Select	ENSP00000294428.3:n.*2114_*2115insGTTTGTTTGTT
ENST00000294428.7:c.*2114_*2115insGTTTGTTTGTT	ENSP00000294428.3:n.*2114_*2115insGTTTGTTTGTT
ENST00000371072.8:c.*2114_*2115insGTTTGTTTGTT	ENSP00000360112.4:n.*2114_*2115insGTTTGTTTGTT
NM_018211.3:c.*2114_*2115insGTTTGTTTGTT	NP_060681.2:n.*2114_*2115insGTTTGTTTGTT
XM_006710738.2:c.*2114_*2115insGTTTGTTTGTT	XP_006710801.2:n.*2114_*2115insGTTTGTTTGTT
NM_001366165.1:c.*2114_*2115insGTTTGTTTGTT	NP_001353094.1:n.*2114_*2115insGTTTGTTTGTT
XR_946693.3:n.4533_4534insGTTTGTTTGTT
NM_018211.4:c.*2114_*2115insGTTTGTTTGTT	NP_060681.2:n.*2114_*2115insGTTTGTTTGTT
NM_001366165.2:c.*2114_*2115insGTTTGTTTGTT MANE Select	NP_001353094.1:n.*2114_*2115insGTTTGTTTGTT