Canonical Allele Identifier: CA1172053938
Gene: RAVER2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833137_64833138delinsTC , CM000663.2:g.64833137_64833138delinsTC GRCh38
NC_000001.10:g.65298820_65298821delinsTC , CM000663.1:g.65298820_65298821delinsTC GRCh37
NC_000001.9:g.65071408_65071409delinsTC NCBI36
NG_023402.1:g.138367_138368delinsGA
NG_023402.2:g.239609_239610delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*2152_*2153delinsTC MANE Select ENSP00000294428.3:n.*2152_*2153delinsTC
ENST00000294428.7:c.*2152_*2153delinsTC ENSP00000294428.3:n.*2152_*2153delinsTC
ENST00000371072.8:c.*2152_*2153delinsTC ENSP00000360112.4:n.*2152_*2153delinsTC
NM_018211.3:c.*2152_*2153delinsTC NP_060681.2:n.*2152_*2153delinsTC
XM_006710738.2:c.*2152_*2153delinsTC XP_006710801.2:n.*2152_*2153delinsTC
NM_001366165.1:c.*2152_*2153delinsTC NP_001353094.1:n.*2152_*2153delinsTC
XR_946693.3:n.4571_4572delinsTC
NM_018211.4:c.*2152_*2153delinsTC NP_060681.2:n.*2152_*2153delinsTC
NM_001366165.2:c.*2152_*2153delinsTC MANE Select NP_001353094.1:n.*2152_*2153delinsTC